Patient data are sorted by mutation combination frequency.

Reference:	Blok et al, 2009; [PubMed] 1
Description:	Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a

Reference:	Kollberg et al, 2006; [PubMed] 2
Description:	Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 13, Age of Death: 14

Reference:	Kollberg et al, 2006; [PubMed] 3
Description:	psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 11, Age of Patient: 24, Age of Death: n/a

Reference:	Sarzi et al, 2007; [PubMed] 4
Description:	Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion.
Mutations:	W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 3

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 5
Description:	Presented with epilepsy and headaches, ataxia, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 6 weeks prior to death. Liver dysfunction, cause of death status epilepticus and liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: n/a, Age of Death: 19

Reference:	Tzoulis et al, 2006; [PubMed] 6
Description:	Presented with epilepsy and headaches, ataxia, epilepsy, status epilepticus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: n/a, Age of Death: 23

Reference:	Tzoulis et al, 2006; [PubMed] 7
Description:	Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 55, Age of Patient: 74, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 8
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy. Sodium valproate treatment for 8 months. Stopped just prior to death. Liver dysfunction, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 10

Reference:	Tzoulis et al, 2006; [PubMed] 9
Description:	Presented with epilepsy, headaches, epilepsy, status epilepticus, headaches, nystagmus, and neuropathy. Sodium valproate treatment for 2 months then stopped 2 months prior to death. Liver dysfunction, liver transplant 1 month prior to death, cause of death liver failure. Hepatic histology showed acute liver necrosis.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 20

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 10
Description:	Presented with epilepsy, status epilepticus, headaches, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 7 weeks prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus. Hepatic histology showed centrolobular degeneration.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 21

Reference:	Tzoulis et al, 2006; [PubMed] 11
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 50, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 12
Description:	Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 43, Age of Death: n/a

Reference:	Paus et al, 2008; [PubMed] 13
Description:	Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 37, Age of Death: n/a

Reference:	Amiot et al, 2009; [PubMed] 14
Description:	Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
Mutations:	A143V, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 40, Age of Patient: 49, Age of Death: n/a

Back to top

Reference:	Palin et al, 2012; [PubMed] 15
Description:	No neurological symptoms, but type-2 diabetes and hypertension.
Mutations:	W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 63, Age of Death: n/a

Reference:	Posada et al, 2010; [PubMed] 16
Description:	Ataxic sensory neuropathy, dysarthria, progressive ophthalmoplegia, paresthesia of lower extremities, unsteady gait, slurred speech, absent deep tendon reflexes, vibrations, ataxic gait and positive Romberg sign. Multiple mtDNA deletions, a marked decrease in mtDNA copy number.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 37, Age of Patient: 47, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 17
Description:	minor tremor of the hands from age 12 years. In his late 20s, he experienced tingling in both hands, followed by tingling in the legs. In the early fourth decade, he became unsteady at walking, especially in the dark. From his early 40s, his speech became slurred (dysarthria). On examination at age 52 years, he had an ataxic gait, and Romberg test was positive. There was dysarthria and bilateral ophthalmoparesis. generalized areflexia.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 52, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 18
Description:	Migraine, ataxia, polyneuropathy. focal seizures with visual symptoms and motor signs, and secondary generalized tonic-clonic seizure. Clinical neurological examination revealed an ataxic gait and areflexia with sensory loss. Convulsive status epilepticus. Cerebral MRI revealed a left occipital and left thalamic lesion.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 20, Age of Death: 23

Reference:	Janssen et al, 2016; [PubMed] 19
Description:	Presented with status epilepticus, occipital lobe seizures. Further neurologic examination showed ataxic gait and appendicular ataxia. chronic sensory axonal polyneuropathy. Cognitive decline. At follow-up consultation 6 months after the initial presentation, she had not experienced any more seizures.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 18.7, Age of Death: n/a

Back to top

Reference:	Ashley et al, 2008; [PubMed] 20
Description:	reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: n/a

Reference:	Schulte et al, 2009; [PubMed] 21
Description:	cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 22, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 22
Description:	Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 30, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 23
Description:	Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood.
Mutations:	W748S, W748S
SNPs:	S28C
Age group:	adult
Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 24
Description:	Ataxia, sensory ataxia, dysarthria, nystagmus, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. This man presented at age 26 with unsteadiness. Examination showed an ataxic gait, cerebellar dysarthria, myoclonic jerks of his head and facial muscles, mild limitation of horizontal eye movement, and horizontal nystagmus in the direction of gaze, with an additional vertical element when looking down. There were distal amyotrophy, absent reflexes in the legs, and a symmetric loss of all sensory modalities below the knee. Romberg’s test was positive. Episodes of depression. At age 31 he has an almost complete ophthalmoplegia, cerebellar dysarthria, myoclonus involving face and arms, truncal ataxia, and symmetric dysmetria.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 38, Age of Death: n/a

Back to top

Reference:	Winterthun et al, 2005; [PubMed] 25
Description:	Headaches, a focal epilepsy with secondary generalisation, occipital epilepsy, dysarthria, nystagmus, cognitive dysfunction. Demyelinating neuropathy, axonal neuropathy. headaches preceded by visual symptoms, nausea, vomiting, and unsteadiness diagnosed as migraine. Shortly after, she had the first of a series of tonic-clonic seizures preceded by headache. Examination showed horizontal and vertical nystagmus, gait ataxia.
Mutations:	Q497H, Q497H, W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: 18, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 26
Description:	Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 33, Age of Patient: n/a, Age of Death: n/a

Reference:	Milone et al, 2011; [PubMed] 27
Description:	Stiffness, cramping of the lower extremities, foot numbness, and poor balance. The past medical history was significant for hypogonadotropic hypogonadism diagnosed 10 years prior. ophthalmoplegia without ptosis, mild lower proximal weakness, Multiple mtDNA deletions detected by PCR in muscle
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Reference:	Milone et al, 2011; [PubMed] 28
Description:	progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 33, Age of Death: n/a

Reference:	Pelayo-Negro et al, 2012; [PubMed] 29
Description:	ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 30, Age of Patient: 51, Age of Death: n/a

Back to top

Reference:	Tang et al, 2012; [PubMed] 30
Description:	migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss,
Mutations:	W748S, W748S
SNPs:	S28C
Age group:	adult
Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 31
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 44, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 32
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 38, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 33
Description:	Onset with balance disturbances and neuropathy, Gait and limb ataxia, tremor, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, restricted eye movements, Psychiatric symptoms, Muscle strength decreased, Obesity, muscle cramps, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 38, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 34
Description:	Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 32, Age of Patient: 46, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 35
Description:	Onset with balance disturbances, Gait and limb ataxia, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Psychiatric symptoms, premature menopause, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 27, Age of Patient: 42, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 36
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 24, Age of Patient: 55, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 37
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, facial Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 16, Age of Patient: 37, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 38
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, Dysarthria, other eye-movement abnormalities, Nystagmus, Cognitive impairment, Psychiatric symptoms, cramps, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 23, Age of Patient: 45, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 39
Description:	Onset with epilepsy, Gait and limb ataxia, Epilepsy, Myoclonus, head tremor, facial Involuntary movements, Dysarthria, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, cramps
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 45, Age of Death: n/a

Back to top

Reference:	Hakonen et al, 2005; [PubMed] 40
Description:	Onset with epilepsy, Gait and limb ataxia, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, Cognitive impairment, Obesity, sensory neural hearing deficit, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 44, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 41
Description:	Onset with headaches, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, Dysphagia, Nystagmus, other eye-movement abnormalities, restricted eye movements, ptosis, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased, Obesity
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 28, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 42
Description:	Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 41, Age of Patient: 58, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 43
Description:	Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 36, Age of Patient: 51, Age of Death: n/a

Reference:	Hakonen et al, 2005; [PubMed] 44
Description:	Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 35

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 45
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 18, Age of Patient: 19, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 46
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset at age 28. Acute liver failure after 4 months of sodium valproate treatment
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 19, Age of Patient: 33, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 47
Description:	Presented with epilepsy, ataxia, status epilepticus, headaches, nystagmus, myoclonus, neuropathy, treatment with sodium valproate for 2 months, died 3 years later due to status epilepticus, disseminated intravascular coagulation, liver failure.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 10, Age of Patient: n/a, Age of Death: 22

Reference:	Tzoulis et al, 2006; [PubMed] 48
Description:	Presented with epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 18, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 49
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 38, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 50
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy. Sodium valproate treatment 3 months prior to death. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus and multi-organ failure. Acute liver necrosis
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Reference:	Tzoulis et al, 2006; [PubMed] 51
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 27, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 52
Description:	Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 12, Age of Patient: 38, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 53
Description:	Presented with progressive gait unsteadiness and headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy. Died 2 months after treatment with sodium valproate, cause of death status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 57

Reference:	Tzoulis et al, 2006; [PubMed] 54
Description:	Presented with progressive gait unsteadiness, ataxia, epilepsy, status epilepticus, headaches, myoclonus, neuropathy, ptosis/ PEO onset age 30. Mild liver dysfunction. Cause of death status epilepticus.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: 30

Back to top

Reference:	Tzoulis et al, 2006; [PubMed] 55
Description:	Presented with speech delay, ataxia, epilepsy, status epilepticus, and headaches. Liver dysfunction and rising liver enzymes and bilirubin terminally, cause of death status epilepticus, multi-organ failure. Hepatic histology showed marked steatosis.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 9

Reference:	Johansen et al, 2008; [PubMed] 56
Description:	Presented with focal epileptic seizures, external ophthalmoplegia and gait unsteadiness. At age 28, during her first pregnancy, she was admitted with focal epileptic seizures that were highly resistant to treatment. Two months later her symptoms worsened and included myoclonic jerks in the extremities and facial dyskinesias. Treatment with sodium valproate resulted in acute severe hepatic failure and she underwent a successful liver transplantation. At 35 mild cognitive deficit, cerebellar dysarthria, palatal tremor, facial dyskinesias, myoclonus, cerebellar and sensory ataxia and signs of peripheral neuropathy with loss of reflexes and sensory disturbance were also present
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 19, Age of Patient: 35, Age of Death: n/a

Reference:	Remes et al, 2008; [PubMed] 57
Description:	patient noticed gait and balance difficulties at age 46 years, ataxia, CPEO, cortical and cerebellar atrophy, axonal sensory polyneuropathy, Symmetrical bradykinesia and rigidity, mild tremor, paranoid delusions, During the last 2 years of life he had marked rigidity, dysphagia, myoclonic jerks and dystonia
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 46, Age of Patient: 65, Age of Death: n/a

Reference:	Uusimaa et al, 2008; [PubMed] 58
Description:	Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 14, Age of Patient: 15, Age of Death: n/a

Reference:	Uusimaa et al, 2008; [PubMed] 59
Description:	Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 20

Back to top

Reference:	Uusimaa et al, 2008; [PubMed] 60
Description:	Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: 21, Age of Death: n/a

Reference:	Rouzier et al, 2013; [PubMed] 61
Description:	Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 37, Age of Patient: n/a, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 62
Description:	Gait disturbance since childhood. Early onset suggested anticipation. In his 20's he developed photophobia and general clumsiness and benign paroxysmal positional vertigo. From the age of 37 he has had unspecific sensory polyneuropathy, confirmed by electromyography. He had several simple partial seizures at the age of 39, and has mild anxiety and depression.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 41, Age of Death: n/a

Reference:	Palin et al, 2012; [PubMed] 63
Description:	developed gait disturbance by the age of 35, progressing to increasing clumsiness in lower extremities, dysarthria, diplopia, and occasional amnesia at the age of 44. She developed ataxia, slight polyneuropathy, and external ophthalmoplegia. At the age of 46 she had slightly increased plasma creatine kinase levels and symmetrical cerebellar peduncular white matter signal intensity increase in brain MRI. The first epileptic seizure, requiring treatment by general anesthesia, oc- curred at the age of 55, after which she was hospitalized permanently. From her 30's, she received psychiatric care due to anxiety and depression. A neuropsychological examination revealed decrease in visual reasoning and memory functions. She deceased at the age of 56 due to pneumonia and pulmonary embolism.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 35, Age of Patient: n/a, Age of Death: 56

Reference:	Tzoulis et al, 2013; [PubMed] 64
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: 45, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2013; [PubMed] 65
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: 41

Reference:	Tzoulis et al, 2013; [PubMed] 66
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: n/a, Age of Death: 28

Reference:	Tzoulis et al, 2013; [PubMed] 67
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2013; [PubMed] 68
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: 43

Reference:	Tzoulis et al, 2013; [PubMed] 69
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: 34, Age of Death: n/a

Back to top

Reference:	Sitarz et al, 2014; [PubMed] 70
Description:	Ataxia, neuropathy, PEO, MIRAS.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 36, Age of Death: n/a

Reference:	Tzoulis et al, 2014; [PubMed] 71
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2014; [PubMed] 72
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: 41

Reference:	Tzoulis et al, 2014; [PubMed] 73
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12, Age of Patient: n/a, Age of Death: 28

Reference:	Tzoulis et al, 2014; [PubMed] 74
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 57

Back to top

Reference:	Tzoulis et al, 2014; [PubMed] 75
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 24

Reference:	Tzoulis et al, 2014; [PubMed] 76
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: 43

Reference:	Tzoulis et al, 2014; [PubMed] 77
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy.
Mutations:	W748S, W748S
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 13

Reference:	Schicks et al, 2010; [PubMed] 78
Description:	PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 22, Age of Patient: n/a, Age of Death: n/a

Reference:	Schicks et al, 2010; [PubMed] 79
Description:	early-onset ataxia, epilepsy, sensory neuropathy.
Mutations:	W748S, W748S
Age group:	childhood
Age of Onset: 12.5, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Synofzik et al, 2010; [PubMed] 80
Description:	Dystonia of both arms, with predominant dystonic ulnar deviation of the right upper limb with jerky wrist and finger movements. Also her feet show unpatterend jerky movements, which may be classified as myoclonus but are also similar to limb movements in benign hereditary chorea. external ophthalmoplegia, slowing of voluntary saccades and gait ataxia started.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 33, Age of Patient: n/a, Age of Death: n/a

Reference:	Synofzik et al, 2010; [PubMed] 81
Description:	dystonic ulnar deviation of the left upper limb with distal predominance. She showed intermittent facial and jaw opening dystonia. At rest, she had marked postural instability caused by trunk ataxia, which is aggravated by motor actions like e.g. lifting the upper limbs. severe dysarthria, incomplete horizontal and vertical external ophthalmoplegia and ataxia were observed as clinical features of MIRAS. Patient 2 was only able to stand assisted for a few seconds.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 40, Age of Patient: n/a, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 82
Description:	plurimetabolic syndrome. At age 30 years, he noted disturbed balance, and ataxia and severe axonal neuropathy were diagnosed. On examination at age 32 years, he had slowed ocular pursuit movements but with full range of motion. He had severe gait ataxia, imbalance, and trunk ataxia, as well as clumsiness of the hands. Achilles tendon reflexes were absent. dysarthria, obesity, chronic motor axonopathy, moderate sensory neuropathy at the upper limbs, mild neurogenic atrophy.
Mutations:	W748S, W748S
SNPs:	E1143G, E1143G
Age group:	adult
Age of Onset: 30, Age of Patient: 33, Age of Death: n/a

Reference:	Arkadir et al, 2015; [PubMed] 83
Description:	A 30-year-old man with sensorineural hearing loss presented with subacute somnolence, slurred speech, and unsteady gait following treatment with peginterferon a-2b and ribavirin for chronic hepatitis C virus. Examination revealed scanning speech, horizontal nystagmus, gait ataxia, and symmetric hyporeflexia with distal sensory loss. Bilateral hypertrophic olivary degeneration.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 30, Age of Death: n/a

Reference:	Henao et al, 2016; [PubMed] 84
Description:	a unique combination of lesions in the thalamus, cerebellum and inferior olivary nucleus. ataxia, dysarthria, external ophthalmoparesis, generalized areflexia, abnormal leg pallesthesia, wide-based gait, positive, Romberg test, dysmetria, and a predominantly left dysdiadochokinesia. distal sensorimotor neuropathy.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 24, Age of Patient: 29, Age of Death: n/a

Back to top

Reference:	Paucar et al, 2016; [PubMed] 85
Description:	progressive balance difficulties, impaired gait and coordination (ataxia), slurred speech, diplopia, and hypoacusis, insidious cognitive decline, esophoria. Upon exam, signs of both cerebellar and sensory ataxia (positive Romberg’s sign) as well as chorea, myoclonus, areflexia, and complete loss of vibration sense were found. Bradykinesia and marked postural instability. Eye examination revealed broken up smooth pursuit, nystagmus, mild dysconjugation of lateral eye movements, hypometric saccades and partial restriction of vertical gaze. Psychometric evaluation revealed deficits in information processing speed, working memory, attention, and visuospatial skills. A mild sensorineuronal hearing loss.
Mutations:	W748S, W748S
Age group:	adult
Age of Onset: 48, Age of Patient: 60, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 86
Description:	Focal seizures with left visual field symptoms and motor signs. Neurological examination disclosed PEO, dysarthria, decreased reflexes, loss of proprioception distally in the legs, discrete pyramidal signs and appendicular ataxia on the left side with an ataxic gait. Mild cognitive decline was present. infratentorial white matter lesions, axonal polyneuropathy. negative myoclonus.
Mutations:	W748S, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 26, Age of Patient: 28, Age of Death: 33.5

Reference:	Janssen et al, 2016; [PubMed] 87
Description:	He presented with two focal seizures with jerking of the right arm and leg. Brain imaging showed a T2-hyperintense lesion in the left frontal lobe. Focal status epilepticus characterized by visual hallucinations in the left visual fields. An appendicular ataxia, nystagmus and areflexia. His level of consciousness deteriorated, evolving into a refractory subtle SE. The patient died eventually after 5 months of continuous epileptic activity due to a septic shock.
Mutations:	W748S, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: 20, Age of Death: 20

Reference:	Blok et al, 2009; [PubMed] 88
Description:	MELAS-like, features including occipital lobe epilepsy.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 19, Age of Death: n/a

Reference:	Blok et al, 2009; [PubMed] 89
Description:	Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 40, Age of Death: n/a

Back to top

Reference:	Horvath et al, 2006; [PubMed] 90
Description:	Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Reference:	Schulte et al, 2009; [PubMed] 91
Description:	Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 92
Description:	PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 39, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 93
Description:	Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: n/a

Reference:	Hansen et al, 2012; [PubMed] 94
Description:	gait instability, manual coordination disorder, speech disturbance and secondary generalized motor seizures, tension-type headaches, complete external ophthalmoplegia, cerebellar dysarthria and ataxia, sensory ataxia in Romberg-testing, areflexia of the lower extremities, mild cognitive dysfunction, epileptic seizures, generalised cortical atrophy, sensory axonal neuropathy, dysarthria
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 23, Age of Patient: 48, Age of Death: n/a

Back to top

Reference:	Kinghorn et al, 2012; [PubMed] 95
Description:	Ataxia, dysarthria, suffered two generalized seizures, and developed severe progressive cognitive decline and psychiatric manifestations including visual and auditory hallucinations, bilateral external ophthalmoplegia, bilateral ptosis, and reduced visual acuities, bilateral sensorineural hearing loss, proximal muscle weakness in all four limbs and was areflexic, severe sensory neuropathy and myopathy,
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: 65

Reference:	Kinghorn et al, 2012; [PubMed] 96
Description:	Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 50, Age of Death: n/a

Reference:	Pelayo-Negro et al, 2012; [PubMed] 97
Description:	ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 30, Age of Patient: 50, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 98
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, Severe sensory, moderate motor axonal neuronopathy, Distal neurogenic, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 41, Age of Patient: 48, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 99
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: 47, Age of Death: n/a

Back to top

Reference:	Lax et al, 2012a; [PubMed] 100
Description:	Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: 18, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 101
Description:	Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 20, Age of Patient: 24, Age of Death: n/a

Reference:	Paus et al, 2008; [PubMed] 102
Description:	episodic headache, cognitive decline, and seizures, repeatedly resulting in generalized status epilepticus, ataxia, sensorimotor peripheral neuropathy, dysarthria, PEO with diplopia, mild bilateral ptosis, epilepsy, cognitive impairment, myoclonus,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 28, Age of Patient: 39, Age of Death: n/a

Reference:	Rouzier et al, 2013; [PubMed] 103
Description:	R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Reference:	Roshal et al, 2011; [PubMed] 104
Description:	Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: 16, Age of Death: n/a

Back to top

Reference:	Tuladhar et al, 2013; [PubMed] 105
Description:	abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 43, Age of Patient: 45, Age of Death: n/a

Reference:	Tzoulis et al, 2013; [PubMed] 106
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 24, Age of Patient: 50, Age of Death: n/a

Reference:	Tzoulis et al, 2013; [PubMed] 107
Description:	Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 36, Age of Patient: 58, Age of Death: n/a

Reference:	Hanisch et al, 2014; [PubMed] 108
Description:	Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 41, Age of Patient: 45, Age of Death: n/a

Reference:	Hanisch et al, 2014; [PubMed] 109
Description:	Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 49, Age of Patient: 56, Age of Death: n/a

Back to top

Reference:	Lax et al, 2012b; [PubMed] 110
Description:	Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 20, Age of Patient: 24, Age of Death: n/a

Reference:	Sitarz et al, 2014; [PubMed] 111
Description:	Ataxia, neuropathy, PEO, MIRAS.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 39, Age of Death: n/a

Reference:	Tzoulis et al, 2014; [PubMed] 112
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 13, Age of Patient: n/a, Age of Death: 21

Reference:	Tzoulis et al, 2014; [PubMed] 113
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: 14, Age of Patient: n/a, Age of Death: 23

Reference:	Janssen et al, 2016; [PubMed] 114
Description:	She had occipital lobe and secondarily generalized seizures. In addition, she had PEO, truncal and appendicular ataxia and peripheral neuropathy with diminished vibration sense and areflexia. She reported sporadic occurrence of seizures with a frequency of once in every few months.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 21, Age of Patient: 47, Age of Death: n/a

Back to top

Reference:	Ashley et al, 2008; [PubMed] 115
Description:	Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia).
Mutations:	G848S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: n/a

Reference:	Isohanni et al, 2011; [PubMed] 116
Description:	Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 11

Reference:	Taanman et al, 2009; [PubMed] 117
Description:	Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 6.5, Age of Patient: n/a, Age of Death: 7.8

Reference:	Tang et al, 2011; [PubMed] 118
Description:	Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood.
Mutations:	G848S, W748S
Age group:	childhood
Age of Onset: n/a, Age of Patient: 7, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 119
Description:	Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood.
Mutations:	G848S, W748S
Age group:	childhood
Age of Onset: n/a, Age of Patient: 5, Age of Death: n/a

Back to top

Reference:	Davidzon et al, 2005; [PubMed] 120
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.7, Age of Patient: n/a, Age of Death: 2.5

Reference:	Davidzon et al, 2005; [PubMed] 121
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 6.5

Reference:	Davidzon et al, 2005; [PubMed] 122
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.1, Age of Patient: n/a, Age of Death: 0.9

Reference:	Davidzon et al, 2005; [PubMed] 123
Description:	hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1

Reference:	Nguyen et al, 2005; [PubMed] 124
Description:	Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic acidemia
Mutations:	G848S, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 1.7

Back to top

Reference:	Wolf et al, 2009; [PubMed] 125
Description:	Developemental delay, status epilepticus onset at 6 years 7 months, valproic acid therapy 6 weeks, liver failure with transplant, epilepsia partialis continua, elevated CSF lactate, elevated CSF protein, mtDNA depletion in liver
Mutations:	G848S, W748S
Age group:	infantile
Age of Onset: 6.6, Age of Patient: 7.8, Age of Death: n/a

Reference:	Wolf et al, 2009; [PubMed] 126
Description:	status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein,
Mutations:	G848S, W748S
Age group:	childhood
Age of Onset: 10.67, Age of Patient: n/a, Age of Death: 11.5

Reference:	Saneto et al, 2010; [PubMed] 127
Description:	seizure onset at 2 years, complex partial seizure and epilepsia partialis continua myoclonus, Truncal ataxia, intention tremor
Mutations:	G848S, W748S
Age group:	infantile
Age of Onset: 2, Age of Patient: 4, Age of Death: n/a

Reference:	Hunter et al, 2011; [PubMed] 128
Description:	Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers
Mutations:	G848S, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: 6.75

Reference:	Hunter et al, 2011; [PubMed] 129
Description:	Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
Mutations:	G848S, W748S
Age group:	infantile
Age of Onset: 2, Age of Patient: n/a, Age of Death: 6.33

Back to top

Reference:	Wong et al, 2008; [PubMed] 130
Description:	Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
Mutations:	A467T, Q497H, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 131
Description:	developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 132
Description:	He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: 1.25, Age of Death: n/a

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 133
Description:	He exhibited a very similar phenotype to his sister, with a catastrophic onset of intractable seizures at the age of 9 months, progressive encephalopathy with epilepsia partialis continua and myoclonic jerks, and developmental regression. MRI imaging was not performed.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: 1.25, Age of Death: n/a

Reference:	Brunetti-Pierri et al, 2008; [PubMed] 134
Description:	The index patient presented at the age of 8 months with microcephaly, seizures, and developmental delay. From the time of the first observation she rapidly developed epilepsia partialis continua, multifocal myoclonic jerks, and progressive psychomotor retardation. MRI performed at 8 months was generally unremarkable. By 9 months of age the brain MRI showed signifi cant changes including a diffuse severe cerebral and cerebellar atrophy involving gray and white matter.
Mutations:	G848S, Q497H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: n/a, Age of Patient: 0.6, Age of Death: 1

Back to top

Reference:	Ferrari et al, 2005; [PubMed] 135
Description:	An apparently myogenic torticollis was noticed after a few months of life; at 10 months, he had two episodes of sudden head drop, followed by the onset of psychomotor arrest/ regression, hypotonia, ataxia and focal myoclonus of the right upper limb. In the following weeks, the myoclonus became subcontinuous, and was associated with rapidly progressive, severe generalized hypotonia and weakness requiring ventilatory assistance. Seizures were partially controlled with a combination of topiramate, clobazam and phenylbarbiturate. symmetrical lesions of the basal ganglia, thalami, cerebellar dentate nuclei and left occipital cortical and subcortical regions. abnormal accumulation of lactic acid in the putamen and a reduction of the N-acetyl aspartate. cholestatic jaundice, hypoglycaemia and hypocoagulation. The diagnostic conclusion was Alpers syndrome.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.2, Age of Patient: n/a, Age of Death: 2.5

Reference:	Ferrari et al, 2005; [PubMed] 136
Description:	disease-free interval in the first 4 months after birth, followed by persistent vomiting, epileptic crises with loss of eye contact, and myoclonus in the upper limbs with secondary generalization and loss of consciousness. Persistent myoclonus in the upper limbs was associated with profound hypotonia and loss of eye contact. cortical atrophy and leukoencephalopathy in the subcortical areas of the frontal lobes. progressive hepatic failure with enlarged liver, hypoalbuminaemia and predominantly cholestatic jaundice led to the death of the child at 8 months of age.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 0.67

Reference:	Sarzi et al, 2007; [PubMed] 137
Description:	Myoclonus, epilepsy, Psychomotor retardation, Alpers syndrome, steatosis
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 0.25, Age of Patient: n/a, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 138
Description:	Muscle weakness, respiratory failure, Alpers, Lactic acidosis, Seizures, Demential , developmental delay
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: n/a

Reference:	Wolf et al, 2009; [PubMed] 139
Description:	Alpers. At 7 months she developed focal clonic Status epilepticus. SE subsided slowly after a continuous infusion of valproic acid. she developed severe muscular hypotonia and feeding difficulties necessitating nasogastric feeding. Twelve weeks after disease onset, she was readmitted with vomiting and pneumonia. Infantile scoliosis.
Mutations:	W748S
SNPs:	PNF
Age group:	infantile
Age of Onset: 0.58, Age of Patient: n/a, Age of Death: 0.83

Back to top

Reference:	Mousson de Camaret et al, 2011 [PubMed] 140
Description:	At 16 months of age, he started a severe status epilepticus. Cerebral MRI showed brain cortical atrophy. he developed intractable epileptic encephalopathy associated with generalized hypotonia and cortical blindness. diffuse hypotonia, lethargy and vomiting. During the two following years, epilepsy was always very active including spasms and myoclonic jerks. progressive hepatic failure. Alpers.
Mutations:	W748S
SNPs:	E1143G, PNF
Age group:	infantile
Age of Onset: 1.33, Age of Patient: n/a, Age of Death: 4.17

Reference:	Rouzier et al, 2013; [PubMed] 141
Description:	R-EPC (refractory epilepsia partialis continua), delayed psychomotor development. Has unrelated healthy parents. Pregnancy and birth were unremarkable. She had had a moderately delayed psychomotor development with sitting posture at 9 months of age and walking at 20 months of age. At 3 years old, she presented with acute partial status epilepticus. After this first episode, she developed refractory EPC with neurological regression leading to a severe encephalopathy. At 4 years, she was unable to hold her head up or to sit and had poor contact. Muscle biopsy showed lipid accumulation and spectrophotometric measurements of the indivi- dual RC complexes revealed CIII deficiency, associated with decreased activitiy of complexes II and V. In the liver, specific activity of complexes I, III and V was also affected. mtDNA depletion was identified by qPCR (25% of the mean normal control amount of mtDNA relative to nuclear DNA in the muscle and 30% in the liver). Sequencing identified only one heterozygous mutation (p.Trp748Ser) in POLG, inherited from the mother.
Mutations:	W748S
SNPs:	PNF
Age group:	infantile
Age of Onset: 2, Age of Patient: 4, Age of Death: n/a

Reference:	Kaliszewska et al, 2015; [PubMed] 142
Description:	a psychomotor retardation and muscle hypotonia were observed since 2 months of age, and autistic behaviour was observed during early childhood. At the age of 3 years, the patient was given valproic acid due to episodes of unconsciousness and abnormal EEG pattern and responded suddenly with an acute liver failure.
Mutations:	PNF, W748S
Age group:	infantile
Age of Onset: 1.67, Age of Patient: n/a, Age of Death: 3.5

Reference:	Ashley et al, 2008; [PubMed] 143
Description:	mtDNA depletion in muscle, Epilepsy, hepatopathy, movement disorder
Mutations:	T914P, W748S
Age group:	infantile
Age of Onset: 1.1, Age of Patient: n/a, Age of Death: n/a

Reference:	Ashley et al, 2008; [PubMed] 144
Description:	reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver.
Mutations:	T914P, W748S
Age group:	childhood
Age of Onset: 4, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Isohanni et al, 2011; [PubMed] 145
Description:	developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
Mutations:	T914P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 2.5, Age of Patient: 3, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 146
Description:	Age 0.8, developmental delay, hypotonia, myoclinic seizures, spasticity, dystonia, exercise intolerance, GI reflux, abnormal EEG, elevated transaminases, increased signal basal ganglia, abnormal MRI, lactic acidosis, high CSF lactate.
Mutations:	T914P, W748S
Age group:	infantile
Age of Onset: n/a, Age of Patient: 0.8, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 147
Description:	Seizures. 98% mtDNA copy number in blood.
Mutations:	T914P, W748S
Age group:	childhood
Age of Onset: n/a, Age of Patient: 5, Age of Death: n/a

Reference:	Hinnell et al, 2012; [PubMed] 148
Description:	Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis
Mutations:	T914P, W748S
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: n/a

Reference:	Rouzier et al, 2013; [PubMed] 149
Description:	Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion.
Mutations:	T914P, W748S
Age group:	childhood
Age of Onset: 6, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Ashley et al, 2008; [PubMed] 150
Description:	reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver.
Mutations:	R852C, W748S
SNPs:	G11D
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 151
Description:	Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
Mutations:	R852C, W748S
SNPs:	E1143G, G11D
Age group:	infantile
Age of Onset: 1.33, Age of Patient: n/a, Age of Death: n/a

Reference:	Naess et al, 2009; [PubMed] 152
Description:	Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement
Mutations:	R852C, W748S
SNPs:	G11D
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1.1

Reference:	Vasta et al, 2012; [PubMed] 153
Description:	PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
Mutations:	R852C, W748S
SNPs:	E1143G, G11D
Age group:	infantile
Age of Onset: 0.001, Age of Patient: n/a, Age of Death: n/a

Reference:	Sofou et al, 2013; [PubMed] 154
Description:	Alpers/ Alpers–Huttenlocher.
Mutations:	Q497H, R852C, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2009; [PubMed] 155
Description:	PEO, ptosis, muscle fatigue, diplopia, a mild external ophthalmoplegia affecting horizontal, but not vertical gaze. Tendonreflexes were diminished in the lower extremities and a distal sensory defect in stocking distribution was seen.
Mutations:	P587L, W748S
SNPs:	T251I
Age group:	adult
Age of Onset: 45, Age of Patient: 50, Age of Death: n/a

Reference:	Ylönen et al, 2013; [PubMed] 156
Description:	Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers.
Mutations:	P587L, W748S
SNPs:	E1142G, T251I
Age group:	adult
Age of Onset: 49, Age of Patient: 65, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 157
Description:	Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.
Mutations:	R953C, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 51, Age of Death: n/a

Reference:	Tang et al, 2012; [PubMed] 158
Description:	Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy
Mutations:	R953C, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 50, Age of Death: n/a

Reference:	Nolte et al, 2013; [PubMed] 159
Description:	Generalized tonic-clonic seizures which, within 3 days, evolved to epilepsia partialis continua (EPC) with continuous left-sided myoclonic jerks. Multifocal brain lesions and global brain atrophy.
Mutations:	R627W, W748S
Age group:	juvenile
Age of Onset: 13, Age of Patient: 16, Age of Death: 17

Back to top

Reference:	Nolte et al, 2013; [PubMed] 160
Description:	This previously healthy 17-year-old patient developed repeated complex partial seizures starting with visual sensations, as well as myoclonic jerks of her right arm that rapidly evolved to generalized tonic-clonic seizures. Repeated complex partial seizures and considerable mental impairment.
Mutations:	R627W, W748S
Age group:	juvenile
Age of Onset: 17, Age of Patient: 17, Age of Death: n/a

Reference:	Simonati et al, 2003b; [PubMed] 161
Description:	epilepsia partialis continua at 10 months, pyramido-cerebellar syndrome 19 months, myoclonic seizures when 4.5 years old. myoclonic jerks. At the age of 8 years, a brain CT scan showed atrophy of the right occipital cortex. signs and symptoms of liver dysfunction. chronic progressive liver disease. diffuse cortical atrophy. myoclonic epilepsy became resistant to any medication, myoclonic status along with episodes of respiratory failure. His clinical condition rapidly worsened and led to a vegetative state.
Mutations:	L244P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.8, Age of Patient: 9, Age of Death: 15

Reference:	Simonati et al, 2003b; [PubMed] 162
Description:	myoclonic fits of the right limbs and then a dystonic-ataxic syndrome at the age of 5 months. He had a rapid clinical deterioration. At age 6 months, a brain CT scan showed diffuse cortical atrophy. acute hepatic failure.
Mutations:	L244P, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.42, Age of Patient: n/a, Age of Death: 1.1

Reference:	Naimi et al, 2006; [PubMed] 163
Description:	SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle.
Mutations:	L304R, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: 20, Age of Patient: n/a, Age of Death: 27

Reference:	Ashley et al, 2008; [PubMed] 164
Description:	Encephalopathy onset 16 years of age, presented with epilepsy.
Mutations:	P587L, P589L, W748S
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Isohanni et al, 2011; [PubMed] 165
Description:	epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.
Mutations:	R807C, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 3

Reference:	Spinazzola et al, 2009; [PubMed] 166
Description:	Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami.
Mutations:	D930N, W748S
Age group:	infantile
Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1.5

Reference:	Tang et al, 2011; [PubMed] 167
Description:	Alpers. 46% mtDNA copy number in blood.
Mutations:	R852H, W748S
Age group:	childhood
Age of Onset: n/a, Age of Patient: 3, Age of Death: n/a

Reference:	Taanman et al, 2009; [PubMed] 168
Description:	Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver.
Mutations:	H1110Y, W748S
SNPs:	E1143G, Q1236H
Age group:	infantile
Age of Onset: 0.1, Age of Patient: n/a, Age of Death: 0.8

Reference:	Tang et al, 2011; [PubMed] 169
Description:	Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low.
Mutations:	G888D, W748S
Age group:	infantile
Age of Onset: n/a, Age of Patient: 2, Age of Death: n/a

Back to top

Reference:	Tzoulis et al, 2009; [PubMed] 170
Description:	PEO. Primary hypothyroidism and bilateral hearing loss of uncertain duration. She had been operated for bilateral ptosis at 75 years of age and presented to us with 2–3 years of worsening diplopia, gait unsteadiness and paresthaesiae in the distal lower limbs. asymmetrical ptosis and nearly complete external ophthalmoplegia with loss of convergence, oculocephalic reflex and Bell\'s reflex. She had symmetrical distal sensory loss in the lower limbs and absence of Achilles reflexes.
Mutations:	G737R, W748S
Age group:	adult
Age of Onset: 75, Age of Patient: 86, Age of Death: n/a

Reference:	Zsurka et al, 2008; [PubMed] 171
Description:	Epilepsy, seizures, VPA induced liver failure.
Mutations:	L752P, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 7, Age of Patient: n/a, Age of Death: 10

Reference:	Kurt et al, 2010; [PubMed] 172
Description:	Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation.
Mutations:	P1073L, W748S
Age group:	infantile
Age of Onset: 0.01, Age of Patient: n/a, Age of Death: 13

Reference:	Kollberg et al, 2006; [PubMed] 173
Description:	Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis.
Mutations:	R232H, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.5, Age of Patient: n/a, Age of Death: 1.08

Reference:	Komulainen et al, 2010; [PubMed] 174
Description:	mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed.
Mutations:	W748S
SNPs:	E1143G, R722H
Age group:	childhood
Age of Onset: 11, Age of Patient: 22, Age of Death: n/a

Back to top

Reference:	Lax et al, 2012a; [PubMed] 175
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
Mutations:	R1096C, W748S
Age group:	adult
Age of Onset: 25, Age of Patient: 49, Age of Death: n/a

Reference:	Kollberg et al, 2006; [PubMed] 176
Description:	Ragged Red Fibers, COX-Deficient Fibers. mtDNA depletion. He was healthy and his development was normal until 5 months of age. He developed failure to thrive and muscular hypotonia. At 4 years of age, he developed myoclonus, which was first limited to the right eye and the right side of the mouth, but then progressed to epilepsia partialis continua of the entire left side of the body without loss of consciousness. He has developed a complex movement disorder and cognitive impairment, but contact, speech, and memory functions have been retained. He also had ptosis and uncontrolled and uncoordinated movements, especially in his arms.
Mutations:	E1163G, W748S
SNPs:	E1143G
Age group:	infantile
Age of Onset: 0.417, Age of Patient: n/a, Age of Death: n/a

Reference:	Ylönen et al, 2013; [PubMed] 177
Description:	late-onset parkinsons. Tremor. Cardiac arrhythmia.
Mutations:	W748S
SNPs:	E1143G, R993C
Age group:	adult
Age of Onset: 72, Age of Patient: n/a, Age of Death: n/a

Reference:	Kaliszewska et al, 2015; [PubMed] 178
Description:	Alpers syndrome. At the age of 12 months, he became progressively ataxic and recurrent convulsions appeared, developing quickly to severe epileptic encephalopathy. Fulminant liver failure. Severe mitochondrial depletion found in the liver tissue on autopsy.
Mutations:	R869X, W748S
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: 2.5

Reference:	Kaliszewska et al, 2015; [PubMed] 179
Description:	SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves.
Mutations:	V1106A, W748S
Age group:	juvenile
Age of Onset: 13, Age of Patient: 15, Age of Death: n/a

Back to top

Reference:	Nicastro et al, 2015; [PubMed] 180
Description:	A 52-year-old male patient, treated for hypertension and diabetes. Progressive ataxia with palatal tremor (PAPT). progressive gait and balance difficulties since two years. audible ear click and oscillopsia. On neurological examination, he had pendular vertical nystagmus, dysarthria, kinetic and static ataxia with severe postural instability, as well as palatal tremor. He became wheelchair-bound within 4 years after the first symptoms. Family history was unremarkable on the maternal side and unknown on the paternal side. The mother of the patient died at the age of 86 without evidence of neurologic disease.
Mutations:	I1185N, W748S
Age group:	adult
Age of Onset: 50, Age of Patient: 52, Age of Death: n/a

Reference:	Sarzi et al, 2007; [PubMed] 181
Description:	Feeding difficulties 2 days after birth and trunk hypotonia, dysmorphy, hypotonia, coloboma, heart failure at 2 months, liver insufficiency at 4 months. Liver and muscle mtDNA depletion.
Mutations:	A467T, K561M, W748S
Age group:	infantile
Age of Onset: 0.001, Age of Patient: n/a, Age of Death: 0.5

Patient data are sorted by mutation combination frequency.

Reference:	Ashley et al, 2008; [PubMed] 1
Description:	Epilepsy, ataxia
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 2
Description:	Alpers, Encephalopathy, liver failure.
Mutations:	A467T, A467T
Age group:	infantile
Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 3
Description:	PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 30, Age of Patient: n/a, Age of Death: n/a

Reference:	Stewart et al, 2009; [PubMed] 4
Description:	PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 12, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Tang et al, 2011; [PubMed] 5
Description:	Age 19.6, developmental delay, after 18 years, rapid onset of muscle weakness, ataxia, myoclonic seizures, optic atrophy, diplopia, dysarthria. 102% mtDNA copy number in blood.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 18, Age of Patient: 20, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 6
Description:	Ataxia, peripheral neuropathy, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, delayed gastric emptying, diarrhoea, constipation, lactic acidosis, abnormal muscle ultratstructure, ragged red fibers. 75% mtDNA copy number in blood.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: n/a, Age of Patient: 46, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 7
Description:	Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: n/a, Age of Patient: 40, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 8
Description:	At age 17, she had an epileptic seizure preceded by tiredness and blurred vision. Visual blurring and poor memory persisted and 5 days later she developed status epilepticus with a focal start in the right arm. Examination showed horizontal nystagmus that did not settle, normal eye movements, and normal peripheral findings except that the deep tendon reflexes were recorded as weak. She returned 3 years later at age 20 with headache and unsteadiness. myoclonus and progressive ophthalmoplegia, ataxia, frequent myoclonic jerks. Cognitive dysfunction, axonal neuropathy.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 17, Age of Patient: 49, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 9
Description:	Headache, tremor, sensory ataxia, dysarthria, nystagmus, ophthalmoplegia, cognitive dysfunction, axonal neuropathy, demyelinating neuropathy. She had headaches with preceding visual symptoms diagnosed as migraine that started at age 16. Episodic, involuntary jerking movements involving head and hands developed soon after. At age 18 she had two tonic clonic seizures preceded by poor concentration, confusion, and increased involuntary movements. Examination recorded titubation and myoclonus of the arms diminished reflexes in the legs, and reduced proprioception at the hallux. She has recurrent seizures and frequent headaches. At age 26 cerebellar and sensory ataxia, dysarthria, limita- tion of horizontal and vertical eye movements, and absent reflexes were recorded. COX negative fibers. At age 37 she was admitted with status epilepticus preceded by headache and visual symptoms in the right visual field. She remains ataxic but ambulant with assistance.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 16, Age of Patient: 39, Age of Death: n/a

Back to top

Reference:	Winterthun et al, 2005; [PubMed] 10
Description:	Headache, tremor. At age 20, he developed unsteadiness and dizziness. Examination showed upper limb tremor and myoclonus, and titubation. At age 31 limitation of horizontal eye movements was recorded; muscle biopsy was reported as showing no ragged red fibers. Subsequently, he developed limb and truncal ataxia, worsening ophthalmoplegia, pain in his extremities with glove and stocking sensory loss, particularly affecting proprioception, and sudden falls with altered consciousness that responded to anticonvulsant treatment. Sensory ataxia. axonal neuropathy, ophthalmoplegia, demyelination neuropathy, cognitive dysfunction, focal occipital epilepsy.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 10, Age of Patient: 43, Age of Death: n/a

Reference:	Winterthun et al, 2005; [PubMed] 11
Description:	This man developed epilepsy at age 5. At age 16 he developed unsteadiness and was euphoric. He had a right-sided divergent squint and difficulties on upgaze when the right eye would drift outward. Eye movements were otherwise full. There were horizontal nystagmus, absent tendon reflexes, and loss of proprioception distally in the legs. His gait was ataxic. Positive Romberg sign. At age 20 mild dysarthria was noted. Subsequently, he developed finger dysmetria, dysdiadochokinesis and myoclonus involving his arms, diarrhea, weight loss and cachexia, and ophthalmoplegia. Between the ages of 35 and 54 years he had infrequent seizures, but at age 55 he developed treatment-resistant status epilepticus and died. Cognitive dysfunction, axonal neuropathy, status epilepticus.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 55

Reference:	Wong et al, 2008; [PubMed] 12
Description:	Onset 23 years with ataxia, neuropathy, hearing loss, seizures, and VPA liver failure. From "Saneto et al, 2010": Sensory neuropathy, ataxia, seizure onset at 15 years, simple partial seizure and epilepsia partialis continua myoclonus, VPA treatment caused liver failure after 3 months, progressive encephalopathy, Sensorineural hearing loss, dysmetria, intention tremor, hypotonia
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 15, Age of Patient: 23, Age of Death: 23.5

Reference:	Wong et al, 2008; [PubMed] 13
Description:	Onset 32 years with neuropathy, myopathy, SANDO, PEO.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 32, Age of Patient: n/a, Age of Death: n/a

Reference:	Nguyen et al, 2005; [PubMed] 14
Description:	Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 8.5, Age of Patient: n/a, Age of Death: 9

Back to top

Reference:	Milone et al, 2011; [PubMed] 15
Description:	progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 31, Age of Patient: 34, Age of Death: n/a

Reference:	Wolf et al, 2009; [PubMed] 16
Description:	Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver
Mutations:	A467T, A467T
Age group:	infantile
Age of Onset: 2.67, Age of Patient: 6, Age of Death: n/a

Reference:	Wolf et al, 2009; [PubMed] 17
Description:	status epilepticus onset, valproic acid therapy 12 weeks, liver failure,
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 9.25, Age of Patient: 11, Age of Death: n/a

Reference:	McHugh et al, 2010; [PubMed] 18
Description:	progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 42, Age of Patient: 62, Age of Death: n/a

Reference:	McHugh et al, 2010; [PubMed] 19
Description:	progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 41, Age of Patient: 46, Age of Death: n/a

Back to top

Reference:	Brinjikji et al, 2011; [PubMed] 20
Description:	Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, ataxia, myoclonus, progressive gait ataxia, ophthalmoplegia, dysarthria, dysphagia, valproate induced encephalopathy and depression
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 18, Age of Patient: 39, Age of Death: n/a

Reference:	Brinjikji et al, 2011; [PubMed] 21
Description:	Hospitalized at age 7 for headache, fever, lethargy, and seizures, Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, The patient began valproate therapy at age 11 and suffered hepatic encephalopathy which resolved after carnitine therapy.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 7, Age of Patient: 28, Age of Death: n/a

Reference:	Hunter et al, 2011; [PubMed] 22
Description:	Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 10.83

Reference:	Visser et al, 2011; [PubMed] 23
Description:	Migraine, seizures, dysphasia, magnesium infusion stopped the seizures
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Reference:	Visser et al, 2011; [PubMed] 24
Description:	Seizures, magnesium infusion stopped the seizures
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 19, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Tang et al, 2012; [PubMed] 25
Description:	ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers,
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: n/a, Age of Patient: 46, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 26
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change,
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 41, Age of Patient: 44, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 27
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal neurogenic change, proximal myopathy.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 18, Age of Patient: 36, Age of Death: n/a

Reference:	Tzoulis et al, 2006; [PubMed] 28
Description:	Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 15, Age of Patient: 20, Age of Death: n/a

Reference:	Boes et al, 2009; [PubMed] 29
Description:	Presented with status epilepticus, cerebellar ataxia and myoclonus, epilepsia partialis continua, Transient liver dysfunction with sodium valproate treatment at age 15, refractory focal motor status at age 17,
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 5, Age of Patient: n/a, Age of Death: 17

Back to top

Reference:	Tzoulis et al, 2013; [PubMed] 30
Description:	Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 53

Reference:	Tzoulis et al, 2013; [PubMed] 31
Description:	Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 15, Age of Patient: 42, Age of Death: n/a

Reference:	Hanisch et al, 2014; [PubMed] 32
Description:	Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 38, Age of Patient: 40, Age of Death: n/a

Reference:	Tzoulis et al, 2014; [PubMed] 33
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 8, Age of Patient: n/a, Age of Death: 47

Reference:	Tzoulis et al, 2014; [PubMed] 34
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 15, Age of Patient: n/a, Age of Death: 44

Back to top

Reference:	Tzoulis et al, 2014; [PubMed] 35
Description:	Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 16, Age of Patient: n/a, Age of Death: 53

Reference:	Schicks et al, 2010; [PubMed] 36
Description:	early-onset ataxia, epilepsy, sensory neuropathy.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 12.5, Age of Patient: n/a, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 37
Description:	Increasing gait unsteadiness, mild cognitive decline in the fifth decade. Cataracts. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. gaze paresis, nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 49, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 38
Description:	Increasing gait unsteadiness. ataxic gait. Deep tendon reflexes were absent. Vibration and position sense were absent at the lower limbs early on, whereas light touch sensation was decreased at a later stage. Pes Cavus. Dysarthria. horizontal and vertical gaze-evoked nystagmus. axonal generalized peripheral neuropathy. brainstem dysfunction.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a

Reference:	Van Goethem et al, 2004; [PubMed] 39
Description:	at 18 year of age, he hadstatus epilepticus lasting 8 days, followed by a “Todd paralysis” of the left arm and face. Five years later, he had an acute psychiatric illness, hyperventilation, gastrointestinal symptoms, gait unsteadiness, and disturbed limb coordination. Between 32 and 35 years of age, he lost 13 kg of weight. On exami- nation, he had sensory gait ataxia, limb ataxia, areflexia, generalized dystrophy, and loss of vibration and static joint position sense at the distal lower limbs, severe dysarthria, and a left-sided Babinski sign. Romberg test was positive. intestinal pseudo-obstruction, anorexia, and further weight loss. A few weeks later, he developed stupor (Glasgow coma scale, 5/15), hyperventilation, myoclonic jerks, and seizures necessitating intensive care and artificial ventilation. gastroparesis. dilated cardiomyopathy.
Mutations:	A467T, A467T
Age group:	juvenile
Age of Onset: 18, Age of Patient: n/a, Age of Death: 39

Back to top

Reference:	Rajakulendran et al, 2016; [PubMed] 40
Description:	Alpers. Speech and motor delay were noted at the age of two years. At three years she developed epilepsy and six months later experienced migrainous attacks associated with vomiting, vertigo and transient left-sided weakness. At the age of five years she developed status epilepticus. A month later she was noted to have nystagmus, hypotonia of the lower limbs and absent knee jerks. Liver dysfunction.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 3, Age of Patient: n/a, Age of Death: 5.5

Reference:	Rajakulendran et al, 2016; [PubMed] 41
Description:	MELAS. Occipital headaches. left homonymous hemianopia suggestive of a stroke-like episode. right occipital infarct. Jerking movements of her left arm suggestive of epilepsia partialis continua with dystonia, which was refractory to treatment. She developed an asymptomatic axonal neuropathy, deafness and myopathic weakness. bilateral ptosis, ophthalmoparesis, a dense left homonymous hemianopia, dysarthric speech, increased tone with clawing of the left hand, and distal muscle weakness. In addition, Romberg’s test was positive and she walked with a wide-based gait. ataxic gait. axonal sensory motor neuropathy. ragged red fibres and COX-negative fibres.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 24, Age of Patient: 31, Age of Death: n/a

Reference:	Rajakulendran et al, 2016; [PubMed] 42
Description:	MEMSA. sensory neuropathy affecting legs. normal development until the age of 6 years when she presented with an encephalopathic illness consisting of impaired consciousness, vomiting and generalised tonic-clonic seizures. One week later she developed a left homonymous hemianopia. She remained stable until the age of 13 years when she developed stimulus sensitive myoclonus, tremor and a progressive cerebellar ataxia. Mildly elevated blood lactate and alanine levels and a sensory axonal peripheral neuropathy. occipital lobe infarcts. COX negative fibres. gaze-evoked nystagmus at 17. hand tremor, stimulus- sensitive myoclonus, head titubation, and gait ataxia.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 6, Age of Patient: 16, Age of Death: n/a

Reference:	Rajakulendran et al, 2016; [PubMed] 43
Description:	SANDO. Severe axonal neuropathy. COX-negative fibres, ragged red fibres. presented at the age of 20 years with diplopia and bilateral ptosis. Over the next five years he developed dysphagia, slurred speech and an unsteady gait. tingling sensation in hands, feet, leg, trunk and arms. at 44 years demonstrated bilateral ptosis and limitation of eye movements in all directions of gaze. dysarthria. Romberg’s test was positive. ataxic gait. axonal sensory peripheral neuropathy. ragged red fibres and more than 10 COX-negative fibres.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 20, Age of Patient: 44, Age of Death: n/a

Reference:	Janssen et al, 2016; [PubMed] 44
Description:	At 21 years, presented with a first generalized tonic–clonic seizure. She complained of migraine afterward and developed a convulsive status epilepticus. Visual hallucinations, jerking of the right arm with secondary generalization. She died 7 months after initial presentation.
Mutations:	A467T, A467T
Age group:	adult
Age of Onset: 21, Age of Patient: 21, Age of Death: 21.6

Back to top

Reference:	Janssen et al, 2016; [PubMed] 45
Description:	Sudden falls, frequent negative myoclonus, ataxic gait and loss of proprioception in the distal extremities with nerve conduction studies demonstrating a mild axonal sensory polyneuropathy. myoclonic status epilepticus, generalized tonic–clonic seizure.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 12, Age of Patient: 18, Age of Death: 27

Reference:	Simonati et al, 2003a; [PubMed] 46
Description:	During his early childhood, he had frequent “acetonaemic vomiting” and stunted growth. At age 7 years, he developed EPC and sensory ataxia. epilepsia partialis continua, followed by progressive ataxia Reduced density of the white matter. behavioural problems. Elevated blood lactate. myoclonic seizures. sensory ataxia, absent deep tendon reflexes, cerebellar dysfunction, nystagmus, peripheral vision defect, and a pale optic disk. mild atrophy of the frontal,parietal and visual cortices, focal hyperlucencies of the frontal and occipital cortex, as well as of the thalamus bilaterally, and cerebellar atrophy. COX-negative fibres. partial and generalized seizures as well as myoclonic fits.
Mutations:	A467T, A467T
Age group:	childhood
Age of Onset: 7, Age of Patient: 18, Age of Death: 19

Reference:	Blok et al, 2009; [PubMed] 47
Description:	MELAS-like, features including occipital lobe epilepsy.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 19, Age of Death: n/a

Reference:	Blok et al, 2009; [PubMed] 48
Description:	Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 40, Age of Death: n/a

Reference:	Blok et al, 2009; [PubMed] 49
Description:	Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	adult
Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a

Back to top

Reference:	Horvath et al, 2006; [PubMed] 50
Description:	Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Reference:	Kollberg et al, 2006; [PubMed] 51
Description:	Started as an ataxic syndrome, Alpers, ragged red fibers, COX-deficient fibers, mtDNA deletions. mtDNA copy numbers 1.6 fold. She was healthy and developed normally until her late preschool years when she developed slowly progressive ataxia. Occasional myoclonic seizures, and at 13 years of age, valproate treatment was started because of occipital seizures. ataxia, dementia, and cortical blindness. She developed refractory seizures, including multifocal EPC, status epilepticus, and myoclonus.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 5, Age of Patient: 13, Age of Death: 14

Reference:	Kollberg et al, 2006; [PubMed] 52
Description:	psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia. COX-deficient muscle fibers, mtDNA deletions, 160% mtDNA copy number. He was normal until 11 years of age when he developed mild tremor and ataxia. At 13 years of age, he reported occasional migraine-like headaches and was found to have mild ataxia and myoclonus. generalized seizures. mild leftsided hemiparesis, external ophthalmoplegia, and peripheral neuropathy.
Mutations:	A467T, W748S
SNPs:	E1143G
Age group:	childhood
Age of Onset: 11, Age of Patient: 24, Age of Death: n/a

Reference:	Sarzi et al, 2007; [PubMed] 53
Description:	Feeding difficulties 2 days after birth and trunk hypotonia, dysmorphy, hypotonia, coloboma, heart failure at 2 months, liver insufficiency at 4 months. Liver and muscle mtDNA depletion.
Mutations:	A467T, K561M, W748S
Age group:	infantile
Age of Onset: 0.001, Age of Patient: n/a, Age of Death: 0.5

Reference:	Schulte et al, 2009; [PubMed] 54
Description:	Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: n/a, Age of Death: n/a

Back to top

Reference:	Stewart et al, 2009; [PubMed] 55
Description:	PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 39, Age of Patient: n/a, Age of Death: n/a

Reference:	Tang et al, 2011; [PubMed] 56
Description:	Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood.
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: n/a

Reference:	Wong et al, 2008; [PubMed] 57
Description:	Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay
Mutations:	A467T, Q497H, W748S
SNPs:	E1143G
Age group:	juvenile
Age of Onset: 17, Age of Patient: n/a, Age of Death: n/a

Reference:	Hansen et al, 2012; [PubMed] 58
Description:	gait instability, manual coordination disorder, speech disturbance and secondary generalized motor seizures, tension-type headaches, complete external ophthalmoplegia, cerebellar dysarthria and ataxia, sensory ataxia in Romberg-testing, areflexia of the lower extremities, mild cognitive dysfunction, epileptic seizures, generalised cortical atrophy, sensory axonal neuropathy, dysarthria
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 23, Age of Patient: 48, Age of Death: n/a

Reference:	Kinghorn et al, 2012; [PubMed] 59
Description:	Ataxia, dysarthria, suffered two generalized seizures, and developed severe progressive cognitive decline and psychiatric manifestations including visual and auditory hallucinations, bilateral external ophthalmoplegia, bilateral ptosis, and reduced visual acuities, bilateral sensorineural hearing loss, proximal muscle weakness in all four limbs and was areflexic, severe sensory neuropathy and myopathy,
Mutations:	A467T, W748S
Age group:	juvenile
Age of Onset: n/a, Age of Patient: 18, Age of Death: 65

Back to top

Reference:	Kinghorn et al, 2012; [PubMed] 60
Description:	Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions,
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: n/a, Age of Patient: 50, Age of Death: n/a

Reference:	Pelayo-Negro et al, 2012; [PubMed] 61
Description:	ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 30, Age of Patient: 50, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 62
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, Severe sensory, moderate motor axonal neuronopathy, Distal neurogenic, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 41, Age of Patient: 48, Age of Death: n/a

Reference:	Lax et al, 2012a; [PubMed] 63
Description:	CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
Mutations:	A467T, W748S
Age group:	adult
Age of Onset: 34, Age of Patient: 47, Age of Death: n/a