Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference |
|
| 4 | A467T2
| F88L1
| Clinical indications reported as N/A only information provided is age of patient and 71% mtDNA copy number in blood. | | | n/a | 42 | n/a | Tang et al, 2011; [view data] |
| 9 | A467T2
| A143V1
| Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Tang et al, 2011; [view data] |
| 13 | A467T2
| R227W4
| Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months | | | 0.3 | n/a | 0.8 | de Vries et al, 2007; [view data] |
| 16 | A467T2
| R227P4
| Severe childhood multi-system disorder, epilepsy and failure to thrive, GI problems, hypotonia, retardation. | | | 0.5 | n/a | 1 | de Vries et al, 2007; [view data] |
| 17 | A467T2
| R227P4
| FTT, died after epilepticus. | | | n/a | n/a | 1 | Blok et al, 2009; [view data] |
| 40 | A467T2
| T251I
P587L2
| PEO, ptosis, proximal weakness, multiple mtDNA deletions-LPCR. 25% COX-deficient fibers | | | 45 | n/a | n/a | Stewart et al, 2009; [view data] |
| 41 | A467T2
| T251I
P587L2
| Exercise intolerance, CPEO, retinitis pigmentosa, diabetes, limb girdle weakness. 2nd patient with cataract and myopathy | | | n/a | 51 | n/a | Blok et al, 2009; [view data] |
| 52 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2010; [view data] |
| 53 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 1 | n/a | 1.4 | Tzoulis et al, 2010; [view data] |
| 54 | A467T2
| G303R3
| Encephalopathy with epilepsy, ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2010; [view data] |
| 59 | A467T2
| L304R3
| myopathy, PEO, dysarthria. | | | 16 | n/a | 37 | Van Goethem et al, 2003a; [view data] |
| 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | 25 | n/a | n/a | Van Goethem et al, 2003a; [view data] |
| 65 | A467T2
| S305R3
| Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] |
| 66 | A467T2
| S305R3
| Alpers, died at age four. Sister also died at age 4 . | | | n/a | n/a | 4 | Blok et al, 2009; [view data] |
| 72 | A467T2
| R417T1
| onset at 2 years with encephalopathy no hepatopathy. | | | 2 | n/a | n/a | Ashley et al, 2008; [view data] |
| 73 | A467T2
| C418R1
| Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia). | | - | movement disorder (ataxia) | |
| | 3 | n/a | n/a | Ashley et al, 2008; [view data] |
| 75 | A467T2
| L428P1
| Alpers, cerebellar ataxia at age 2, seizures at age 3, RC deficiency in liver, hepatocellular insufficiency after valproate treatment at age 3.6, death at age 3.8. 8% mtDNA copy number in liver. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 3.8 | Sarzi et al, 2007; [view data] |
| 79 | W748S5
E1143G
| A467T2
| Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria. | | - | movement disorder (ataxia) | |
| | n/a | 47 | n/a | Blok et al, 2009; [view data] |
| 80 | G11D
R852C1
| A467T2
| Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers. | | | 1.25 | n/a | n/a | Stewart et al, 2009; [view data] |
| 81 | A467T2
| A467T2
| Onset 32 years with neuropathy, myopathy, SANDO, PEO. | | | 32 | n/a | n/a | Wong et al, 2008; [view data] |
| 82 | A467T2
| A467T2
| Stroke/ischaemic episodes, ataxia, seizures, myoclonic seizures, peripheral neuropathy, CPEO. 114% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Tang et al, 2011; [view data] |
| 83 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 18 | 20 | n/a | Tang et al, 2011; [view data] |
| 84 | A467T2
| A467T2
| PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers. | | - | movement disorder (ataxia) | |
| | 12 | n/a | n/a | Stewart et al, 2009; [view data] |
| 85 | A467T2
| A467T2
| PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 30 | n/a | n/a | Stewart et al, 2009; [view data] |
| 86 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | delayed gastric emptying | |
| | n/a | 46 | n/a | Tang et al, 2011; [view data] |
| 87 | A467T2
| A467T2
| 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 | | - | movement disorder (ataxia) | |
| | 15 | 23 | 23.5 | Wong et al, 2008; [view data] |
| 90 | W748S5
| A467T2
| MELAS-like, features including occipital lobe epilepsy. | | | n/a | 19 | n/a | Blok et al, 2009; [view data] |
| 91 | P1073L3
| A467T2
| Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss. | | | 0.01 | n/a | 0.8 | Kurt et al, 2010; [view data] |
| 92 | P1073L3
| A467T2
| Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy. | | | 0.01 | n/a | 3 | Kurt et al, 2010; [view data] |
| 93 | S1095R3
| A467T2
| Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present. | | - | abnormal muscle histology | |
| - | delayed gastric emptying | |
| | 0.333 | n/a | 0.583 | Tang et al, 2011; [view data] |
| 94 | R807C3
| A467T2
| Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] |
| 95 | R807H3
| A467T2
| Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] |
| 96 | L886P1
| A467T2
| Onset 1 years with dementia, seizures, and liver failure. Alpers | | | 1 | 1 | n/a | Wong et al, 2008; [view data] |
| 97 | T914P1
| A467T2
| Developmental delay, hypotonia, seizures, myoclonic seizures, hemiparesis, intractable seizure, elevated transaminases, FTT, lactic acidosis, high CSF lactate, elevated pyruvate, high CSF protein, dementia/encephalopathy. 112% mtDNA copy number in muscle, 63% mtDNA copy number in blood. | | | n/a | 0.9 | n/a | Tang et al, 2011; [view data] |
| 98 | T914P1
| A467T2
| Onset 2 years with dementia, seizures, and liver failure. Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] |
| 99 | T914P1
| A467T2
| Onset at 9 months with alpers, death at 12 months. 8% mtDNA copy number in liver, 8% mtDNA copy number in muscle. | | | 0.8 | n/a | 1 | Taanman et al, 2009; [view data] |
| 100 | T914P1
| A467T2
| Developmental delay, seizures, myoclonic seizures, intractable seizure, respiratory deficiency/failure, abnormal EEG, abnormal MRI. 60% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] |
| 101 | T914P1
| A467T2
| Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] |
| 102 | T914P1
| A467T2
| Seizures, hepatic failure, duplicated cyst of ileum, FTT, diarrhea. 13% mtDNA copy number in liver. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] |
| 103 | T914P1
| A467T2
| Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] |
| 104 | T914P1
| A467T2
| Onset at 4 years with encephalopathy, myoclonus, and SLE. | | | 4 | 8 | n/a | Horvath et al, 2006; [view data] |
| 105 | T914P1
| A467T2
| Onset at 1.5 years with encephalopathy and hepatopathy and cortical blindness. Diagnosed as Alpers. | | | 1.5 | 2 | n/a | Horvath et al, 2006; [view data] |
| 106 | L966R1
| A467T2
| Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy. | | | 4 | n/a | n/a | Ashley et al, 2008; [view data] |
| 107 | C1188R1
| A467T2
| Developmental delay, seizures, abnormal MRI, hypotonia, low in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] |
| 108 | K1191N1
| A467T2
| Onset at .5 years with encephalopathy, liver dysfunction, cardiopathy, diagnosed as Alpers, death at 1.3 years. | | | 0.5 | n/a | 1.3 | Horvath et al, 2006; [view data] |
| 109 | R852C1
G11D
| A467T2
| Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] |
| 110 | A957P1
| A467T2
| Onset at 8 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 17 months. | | | 0.6 | n/a | 1.5 | de Vries et al, 2007; [view data] |
| 111 | G848S1
| A467T2
| Onset at 6 months with FTT, dementia, hypotonia, seizures, hepatopathy, aplasia cutis, delayed myelinisation. Death at 15 months. | | | 0.5 | n/a | 1.3 | de Vries et al, 2007; [view data] |
| 112 | G848S1
| A467T2
| Alpers, seizures, developmental delay, liver failure, hypotonia, impaired vision, renal stones, mtDNA depletion in muscle. 5% COX deficient fibers. | | | 0.7 | n/a | n/a | Stewart et al, 2009; [view data] |
| 113 | L605R2
| A467T2
| Alpers, seizures, myoclonus, liver failure, elevated serum lactate, COX deficient fibers present in muscle and liver, mtDNA depletion in liver. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] |
| 114 | G588D2
| A467T2
| VPA induced liver failure. 50% mtDNA copy number in muscle. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] |
| 115 | R627W5
| A467T2
| Onset at 32 years with encephalopathy, PEO, ataxia, dysphagia, myopathy, neuropathy and cardiomyopathy, hearing loss. Death at 41 years. | | - | movement disorder (ataxia) | |
| | 32 | n/a | 41 | Horvath et al, 2006; [view data] |
| 116 | R627W5
| A467T2
| PEO, SANDO (Horvath 2006 or Van goethem 2003) sensory ataxic neuropathy, PEO, dysarthria. | | | 20 | n/a | n/a | Horvath et al, 2006; [view data] |
| 117 | R627W5
| A467T2
| Onset at 39 years with PEO, ataxia, myopathy, and hearing loss. | | - | movement disorder (ataxia) | |
| | 39 | n/a | n/a | Horvath et al, 2006; [view data] |
| 118 | H754Q2
| A467T2
| Developmental delay, intractable seizure/refractory, hepatic failure, cerebellar atrophy, liver failure. 87% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] |
| 119 | R574W2
| A467T2
| Alpers. Alive at 10 years. Sister died at age 27. | | | 3 | 10 | n/a | Spinazzola et al, 2009; [view data] |
| 120 | R597W2
| A467T2
| Dementia/encephalopathy, ataxia, peripheral neuropathy, ptosis, abnormal muscle histology, abnormal muscle ultrastructure, abnormal respiratory enzyms, large mitochondrial/ proliferation, COX deficiency, ragged red fibers. 100% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 26 | n/a | Tang et al, 2011; [view data] |
| 121 | G737R5
| A467T2
| Onset 60 years with ataxia, neuropathy, myopathy, hearing loss, cerebellar atrophy, SANDO/SCAE, PEO. | | - | movement disorder (ataxia) | |
| | 60 | n/a | n/a | Wong et al, 2008; [view data] |
| 122 | W748S5
| A467T2
| Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes. | | - | movement disorder (ataxia) | |
| | 34 | n/a | n/a | Horvath et al, 2006; [view data] |
| 123 | W748S5
| A467T2
| Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression. | | | 34 | n/a | n/a | Schulte et al, 2009; [view data] |
| 124 | W748S5
| A467T2
| PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF. | | - | movement disorder (ataxia) | |
| | 39 | n/a | n/a | Stewart et al, 2009; [view data] |
| 125 | W748S5
| A467T2
| Autistic features, headaches/migraines, ataxia, seizures, intractable seizure, optic atrophy, abnormal MRI, dystonia, posterior stroke, abnormal EEG. 101% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 18 | n/a | Tang et al, 2011; [view data] |
| 126 | F749S5
| A467T2
| Intractable seizure, abrubt onset of seizure. 15% mtDNA copy number in blood. | | | n/a | 6 | n/a | Tang et al, 2011; [view data] |
| 127 | L1113P1
| A467T2
| Encephalopathy, seizures, pancreatitis, hepatic failure, elevated transaminases, respiratory deficiency/failure, lactic acidosis, mycoplasma infection, pentobarbital induced liver failure. 57% mtDNA copy number in muscle, 78% mtDNA copy number in blood, Complex IV 20%. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] |
| 128 | R1138C1
| A467T2
| Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO. | | | 48 | n/a | n/a | Wong et al, 2008; [view data] |
| 129 | W748S5
| A467T2
| Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia. | | - | movement disorder (ataxia) | |
| | n/a | 40 | n/a | Blok et al, 2009; [view data] |
| 141 | A467T2
| P625R5
| Seizures onset at age 1, death via VPA induced liver failure at age 2. | | | 1 | n/a | 2 | Baruffini et al, 2011; [view data] |
| 178 | A467T2
| F749S5
| Authors report N/A. 6% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] |
| 188 | A467T2
| R852C1
G11D
| reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle. | | | 2.25 | n/a | n/a | Ashley et al, 2008; [view data] |
| 198 | A467T2
| T914P1
| reported as Alpers, onset at 7 months, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 39% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 0.58 | n/a | n/a | Ashley et al, 2008; [view data] |
| 200 | A467T2
| T914P1
| Epilepsy, myoclonus, and developmental delay. | | | n/a | 1 | n/a | Blok et al, 2009; [view data] |
| 212 | A467T2
| A957P1
| Epilepsy, liver failure, occipital strokes, and growth retardation, death at age 1. | | | n/a | n/a | 1 | Blok et al, 2009; [view data] |
| 227 | A467T2
| S1104C1
| PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 48 | n/a | n/a | Agostino et al, 2003; [view data] |
| 233 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 11 | 24 | n/a | Kollberg et al, 2006; [view data] |
| 234 | A467T2
| G268A3
| PEO, age of onset 65 years. | | | 65 | n/a | n/a | Di Fonzo et al, 2003; [view data] |
| 240 | R627Q5
Q1236H
| A467T2
| developed progressive blepharoptosis at the age of 20 and ophthalmoplegia during subsequent years, at 35, the patient developed progressive unsteadiness of gait. She noted fatigue, myalgia and cramps, which were triggered by moderate exercise. At 44, restless legs syndrome, deficits in memory and concentration, and suffered from recurrent episodes of depression, at 46 showed bilateral blepharoptosis, limited eye movements in all directions except downwards, lateral rotatory nystagmus and slight upbeat nystagmus in upward gaze, but no saccades. She had facial muscle weakness, dysarthria and slight proximal muscle weakness. She had glove and stockinglike hypoesthesia, distally impaired vibration sense, absent ankle reflexes and weak other tendon reflexes, as well as mild dysmetria. Her gait was broad-based, with further impairment with eyes closed. Tandem gait was impaired. deltoid muscle showed myopathic features, structurally abnormal mitochondria with para-crystalline inclusions, | | | 20 | 46 | n/a | Luoma et al, 2005; [view data] |
| 242 | | A467T2
| This 64-year-old woman, the mother of the index patient, developed slowly progressive blepharoptosis at the age of 45. She underwent blepharoplasty at the age of 58. In the neurological examination at the age of 63, she had ptosis, but no other neurological deficits. Late onset ptosis. | | | 45 | 64 | n/a | Luoma et al, 2005; [view data] |
| 243 | | A467T2
| This 66-year-old woman developed progressive blepharoptosis slowly at the age of 50. She underwent blepharoplasty at the age of 62, and in the same year, she suffered a transitory ischemic attack. At the age of 66, no clinical findings except ptosis were detectable. Late onset ptosis. | | | 50 | 66 | n/a | Luoma et al, 2005; [view data] |
| 244 | | A467T2
| This 50-year-old woman developed progressive blepharoptosis slowly at the age of 40. She underwent blepharoplasty at the age of 47. Her neurological examination at the age of 50 was normal. Late onset ptosis | | | 40 | 50 | n/a | Luoma et al, 2005; [view data] |
| 245 | | A467T2
| probable mild blepharoptosis, early onset ptosis | | | n/a | 23 | n/a | Luoma et al, 2005; [view data] |
| 256 | Nonsense
mutation:
W1020X
| A467T2
| Refractory seizures, psychomotor regression, liver disease, presenting symptom was status epilepticus, Transient hypoglycemia, Transient lactic academia, hypercoagulable state | | | 0.8 | n/a | 1 | Nguyen et al, 2005; [view data] |
| 258 | A467T2
| A467T2
| Refractory seizures, psychomotor regression, liver disease, presented with epilepsia partialis continua, Transient lactic acidemia | | | 8.5 | n/a | 9 | Nguyen et al, 2005; [view data] |
| 259 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, presented with liver failure | | | 1 | n/a | 1.3 | Nguyen et al, 2005; [view data] |
| 260 | A467T2
| G848S1
| Refractory seizures, psychomotor regression, liver disease, Transient hypoglycemia, Transient lactic academia, Elevated CSF protein, presented with epilepsia partialis continua, | | | 0.9 | n/a | 1.8 | Nguyen et al, 2005; [view data] |
| 262 | F749S5
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] |
| 264 | R852C1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] |
| 265 | T914P1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] |
| 266 | L966R1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] |
| 276 | R1138C1
| A467T2
| Bilateral ptosis, distal lower limbs paresthesias, dysphagia, imbalance, inattention, ophthalmoparesis, Multiple mtDNA deletions detected by PCR in blood and muscle | | | 46 | 54 | n/a | Milone et al, 2011; [view data] |
| 277 | A467T2
| A467T2
| progressive bilateral ptosis, limited eye movements, lower extremities paresthesias, and unsteadiness, Multiple mtDNA deletions detected by PCR in muscle | | | 31 | 34 | n/a | Milone et al, 2011; [view data] |
| 280 | G737R5
| A467T2
| progressive sensory ataxic neuropathy, ophthalmoparesis, cerebellar ataxia, limb weakness, muscle cramps, sensory hearing loss, dysarthria, dysphagia, constipation, and memory loss, brain MRI was abnormal with evidence of generalized cortical and cerebellar atrophy, evidence of a length-dependent sensory > motor polyneuropathy of axonal type, Multiple mtDNA deletions detected by PCR in blood | | - | movement disorder (ataxia) | |
| | 53 | 58 | n/a | Milone et al, 2011; [view data] |
| 285 | Splice site
mutation:
c.2157+5_6GC>AG
| A467T2
| speech and motor delay at 1.5 yr, seizure that included eye deviation, jaw clenching, and hypotonia of the trunk and extremities. He experienced repetitive generalized tonic-clonic seizures that evolved into refractory status epilepticus, severe encephalopathy characterized by choreo-athetoid movements, corticovisual impairment, diffuse hypotonia, and severe swallowing dysfunction, elevated plasma lactate, CSF lactate and protein were both elevated, Liver transaminases remained mildly elevated. dysphagia. | | | 1.5 | n/a | n/a | Lutz et al, 2009; [view data] |
| 289 | A467T2
| A467T2
| Developemental delay, status epilepticus onset, valproic acid therapy 2 weeks, epilepsia partialis continua, mtDNA depletion in liver | | | 2.67 | 6 | n/a | Wolf et al, 2009; [view data] |
| 290 | A467T2
| A467T2
| status epilepticus onset, valproic acid therapy 12 weeks, liver failure, | | | 9.25 | 11 | n/a | Wolf et al, 2009; [view data] |
| 292 | R275Q3
| A467T2
| presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 30 | 63 | n/a | Echaniz-Laguna et al, 2010; [view data] |
| 308 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 41 | 46 | n/a | McHugh et al, 2010; [view data] |
| 309 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 42 | 62 | n/a | McHugh et al, 2010; [view data] |
| 311 | G848S1
| A467T2
| Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements | | | 6 | 11 | n/a | Saneto et al, 2010; [view data] |
| 314 | A467T2
| A467T2
| 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 | | - | movement disorder (ataxia) | |
| | 18 | 39 | n/a | Brinjikji et al, 2011; [view data] |
| 315 | A467T2
| A467T2
| 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. | | | 7 | 28 | n/a | Brinjikji et al, 2011; [view data] |
| 318 | G848S1
| A467T2
| Myoclonic Seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 0.5 | n/a | 3.33 | Hunter et al, 2011; [view data] |
| 319 | G848S1
| A467T2
| Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Developmental Delay or Regression, hypotonia, tremor, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, death by liver failure, Alpers | | | 0.83 | n/a | 0.92 | Hunter et al, 2011; [view data] |
| 320 | A467T2
| A467T2
| Myoclonic Seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, Abnormal Liver Enzymes, Alpers | | | 5 | n/a | 10.83 | Hunter et al, 2011; [view data] |
| 321 | R852C1
| A467T2
| Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers | | - | movement disorder (ataxia) | |
| | 1.33 | n/a | 5.08 | Hunter et al, 2011; [view data] |
| 322 | S305R3
| A467T2
| Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | | 3 | n/a | 3.67 | Hunter et al, 2011; [view data] |
| 323 | L966R1
| A467T2
| Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, visual disturbance, Abnormal Liver Enzymes, liver mtDNA depletion, Alpers | | | 0.75 | n/a | 1.75 | Hunter et al, 2011; [view data] |
| 324 | L966R1
| A467T2
| Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, motor paresis, tremor Abnormal Liver Enzymes, Alpers | | | 1.42 | n/a | 1.58 | Hunter et al, 2011; [view data] |
| 325 | R232H4
H277L3
| A467T2
| Developmental Delay or Regression, motor paresis, hypotonia, vomiting, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy | | | 0.17 | n/a | 0.25 | Hunter et al, 2011; [view data] |
| 326 | R232H4
H277L3
| A467T2
| Developmental Delay or Regression, hypotonia, vomiting, Abnormal Liver Enzymes, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy | | | 0.125 | n/a | 0.25 | Hunter et al, 2011; [view data] |
| 327 | L966R1
| A467T2
| focal seizures, elevated blood lactate, elevated liver enzymes, Elevated CSF protein, severe lactic acidosis, severe encephalopathy, Death occurred ten days after admission | | | 1.42 | n/a | 1.42 | McCoy et al, 2011; [view data] |
| 328 | G848S1
| A467T2
| focal seizures, elevated liver transaminases, Elevated CSF protein, patient died several weeks later | | | 0.8 | n/a | 1 | McCoy et al, 2011; [view data] |
| 329 | R852C1
| A467T2
| clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy, | | | 1.75 | n/a | 3.5 | McCoy et al, 2011; [view data] |
| 330 | C418R1
| A467T2
| presented in status epilepticus, with a 24 h history of lethargy and vomiting, ataxia diagnosed at 17 months, diffuse encephalopathy, | | - | movement disorder (ataxia) | |
| | 1.42 | n/a | 3.58 | McCoy et al, 2011; [view data] |
| 333 | A467T2
| A467T2
| Seizures, magnesium infusion stopped the seizures | | | 19 | n/a | n/a | Visser et al, 2011; [view data] |
| 334 | A467T2
| A467T2
| Migraine, seizures, dysphasia, magnesium infusion stopped the seizures | | | 17 | n/a | n/a | Visser et al, 2011; [view data] |
| 338 | W748S5
| A467T2
| 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 | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| - | external ophthalmoplegia | |
| | 23 | 48 | n/a | Hansen et al, 2012; [view data] |
| 340 | C1188R1
| A467T2
| developmental delay, prolonged generalized seizure, hypotonia, epilepsia partialis continua, congestive heart failure, respiratory difficulty, autopsy showed enlarged and yellow liver, symmetrical but multifocal ischemic encephalopathy with laminar necrosis and neuronal degeneration in the cerebral cortex, Mitochondrial DNA copy number in blood was 43% of control values | | | 0.75 | n/a | 1.17 | Khan et al, 2012; [view data] |
| 341 | A467T2
| W748S5
| Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions, | | | n/a | 50 | n/a | Kinghorn et al, 2012; [view data] |
| 342 | A467T2
| W748S5
| 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, | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | n/a | 18 | 65 | Kinghorn et al, 2012; [view data] |
| 344 | A467T2
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 30 | 50 | n/a | Pelayo-Negro et al, 2012; [view data] |
| 345 | G848S1
| A467T2
| presented with hypoglycemia, lactic acidosis, moderate ketosis and liver dysfunction, generalized hypotonia, progressive jaundice and abdominal distension with ascites, status epilepticus with generalized tonico-clonic seizures. She had an intermittent tremor, moderate truncal ataxia with a wide-based gait, myoclonic seizures, epilepsia partialis continua, | | - | movement disorder (ataxia) | |
| | 0.29 | n/a | 5 | Scalais et al, 2012; [view data] |
| 348 | A467T2
| A467T2
| ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers, | | - | movement disorder (ataxia) | |
| | n/a | 46 | n/a | Tang et al, 2012; [view data] |
| 355 | R1096C3
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change | | | 17 | 42 | n/a | Lax et al, 2012a; [view data] |
| 356 | A467T2
| A467T2
| 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. | | | 18 | 36 | n/a | Lax et al, 2012a; [view data] |
| 360 | W748S5
| A467T2
| 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 | | | 34 | 47 | n/a | Lax et al, 2012a; [view data] |
| 361 | A467T2
| A467T2
| 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, | | | 41 | 44 | n/a | Lax et al, 2012a; [view data] |
| 362 | W748S5
| A467T2
| 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 | | - | movement disorder (ataxia) | |
| | 41 | 48 | n/a | Lax et al, 2012a; [view data] |
| 363 | W748S5
| A467T2
| Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy | | - | movement disorder (ataxia) | |
| | 16 | 18 | n/a | Lax et al, 2012a; [view data] |
| 364 | W748S5
| A467T2
| Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle, | | - | movement disorder (ataxia) | |
| | 20 | 24 | n/a | Lax et al, 2012a; [view data] |
| 382 | A467T2
| A467T2
| Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy | | - | movement disorder (ataxia) | |
| | 15 | 20 | n/a | Tzoulis et al, 2006; [view data] |
| 383 | W748S5
E1143G
| A467T2
| 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. | | | 20 | n/a | 20 | Tzoulis et al, 2006; [view data] |
| 384 | W748S5
E1143G
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25 | | - | movement disorder (ataxia) | |
| | 24 | 43 | n/a | Tzoulis et al, 2006; [view data] |
| 385 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 10 | n/a | 10 | Tzoulis et al, 2006; [view data] |
| 386 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 19 | n/a | 19 | Tzoulis et al, 2006; [view data] |
| 387 | W748S5
E1143G
| A467T2
| Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44 | | - | movement disorder (ataxia) | |
| | 36 | 50 | n/a | Tzoulis et al, 2006; [view data] |
| 388 | W748S5
E1143G
| A467T2
| 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. | | | 15 | n/a | 21 | Tzoulis et al, 2006; [view data] |
| 389 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 14 | n/a | 23 | Tzoulis et al, 2006; [view data] |
| 402 | A467T2
| W748S5
K561M2
| 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. | | | 0.001 | n/a | 0.5 | Sarzi et al, 2007; [view data] |
| 408 | G848S1
| A467T2
| Delayed motor and mental development, From the age of 3 years his psychomotor development declined and epilepsy, visual impairment and sensorineuronal deafness, epilepsia partialis continua. Bilateral ptosis, generalized hypotonia, ataxia, absent reflexes and hyperlaxity by age 5. | | - | movement disorder (ataxia) | |
| | 3 | 5 | n/a | de Vries et al, 2008; [view data] |
| 409 | | A467T2
| at age 24 developed PEO and weakness of neck and proximal limb muscles. presence of multiple mtDNA deleted species, unsteady, broad-based gait. At age 32 she had complete PEO, bradykinesia, cogwheel rigidity, slurred speech, dysphagia, dysmetria, positive Romberg sign, reduced arm swing, and intermittent bilateral postural-action tremor. axonal sensorimotor neuropathy, severe depression, insomnia, and nocturnal panic attacks Has also mutation ANT1 gene (V289M) | | - | axonal sensorimotor polyneuropathy | |
| | 24 | 42 | n/a | Galassi et al, 2008; [view data] |
| 411 | Q879H1
E1143G
| A467T2
T885S1
| Presented with epilepsy following minor head trauma, 2 months after valproate treatment developed persistent vomiting and encephalopathy, deranged liver function tests, prolonged clotting, elevated ammonia, and a high plasma lactate, Hepatic dysfunction progressed, | | | 2 | n/a | n/a | McFarland et al, 2008; [view data] |
| 412 | A467T2
| W748S5
| 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, | | - | movement disorder (ataxia) | |
| | 28 | 39 | n/a | Paus et al, 2008; [view data] |
| 413 | A467T2
| W748S5
E1143G
| Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy | | - | movement disorder (ataxia) | |
| | 36 | 37 | n/a | Paus et al, 2008; [view data] |
| 419 | M919T1
| A467T2
| Peripheral neuropathy, PEO, ataxia | | - | movement disorder (ataxia) | |
| | 23 | 41 | n/a | Amiot et al, 2009; [view data] |
| 423 | A467T2
| A467T2
| 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, | | - | movement disorder (ataxia) | |
| | 5 | n/a | 17 | Boes et al, 2009; [view data] |
| 429 | | A467T2
| LS-like, sensorimotor neuropathy. At 56 years old, patient 13 developed a motor neuron disease with severe tetraparesis, dysphonia and respiratory insufficiency leading to death a few years later. Muscular biopsy was strongly evocative of mitochondrial disease with a generalized RC deficiency, multiple mtDNA deletions and decreased mtDNA copy number in the muscle (39%). | | | 56 | 56 | 60 | Rouzier et al, 2013; [view data] |
| 439 | W748S5
| A467T2
| R-EPC (refractory epilepsia partialis continua), axonal neuropathy, cerebellar ataxia, hyperintensity of rolandic, occipital and cerebellar cortex and dentate nucleus. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 17 | n/a | n/a | Rouzier et al, 2013; [view data] |
| 445 | T914P1
| A467T2
| myoclonic status epilepticus, myoclonic seizures at 8 months, developmental regression, febrile upper respiratory tract infection, nearly continuous myoclonic jerks, normocephalic, nondysmorphic, diffuse hypotonia, died secondary to complications of hepatic failure. | | | 0.8 | n/a | 1 | Dhamija et al, 2011; [view data] |
| 447 | G848S1
| A467T2
| Alpers, status epilepticus and somnolence, ataxia with dysmetria and muscular hypotonia. Healthy unrelated parents. Laboratory investigations revealed myoclonic epilepsy with ragged red fibers, | | - | movement disorder (ataxia) | |
| | 2.2 | 3.5 | 5.5 | Hasselmann et al, 2010; [view data] |
| 455 | A467T2
| W748S5
E1143G
| 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. | | - | movement disorder (ataxia) | |
| | 37 | 47 | n/a | Posada et al, 2010; [view data] |
| 456 | W748S5
| A467T2
| Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 15 | 16 | n/a | Roshal et al, 2011; [view data] |
| 459 | W748S5
| A467T2
| abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy. | | - | movement disorder (ataxia) | |
| | 43 | 45 | n/a | Tuladhar et al, 2013; [view data] |
| 460 | A467T2
| A467T2
| Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 16 | n/a | 53 | Tzoulis et al, 2013; [view data] |
| 461 | A467T2
| A467T2
| Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 15 | 42 | n/a | Tzoulis et al, 2013; [view data] |
| 468 | W748S5
| A467T2
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 36 | 58 | n/a | Tzoulis et al, 2013; [view data] |
| 469 | W748S5
| A467T2
| Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO). | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 24 | 50 | n/a | Tzoulis et al, 2013; [view data] |
| 470 | G848S1
| A467T2
| Epilepsy, stroke-like episodes. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2013; [view data] |
| 504 | A467T2
| A467T2
| Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 38 | 40 | n/a | Hanisch et al, 2014; [view data] |
| 505 | W748S5
| A467T2
| Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 49 | 56 | n/a | Hanisch et al, 2014; [view data] |
| 506 | W748S5
| A467T2
| Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 41 | 45 | n/a | Hanisch et al, 2014; [view data] |
| 507 | R627Q5
| A467T2
| Ataxia, ptosis, myalgia, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 46 | 50 | n/a | Hanisch et al, 2014; [view data] |
| 516 | W748S5
| A467T2
| Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease. | | - | movement disorder (ataxia) | |
| | 20 | 24 | n/a | Lax et al, 2012b; [view data] |
| 521 | G848S1
| A467T2
| Alpers, Epilepsy, developmental delay, COX deficient fibres. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] |
| 522 | A467T2
| A467T2
| Alpers, Encephalopathy, liver failure. | | | 1 | n/a | n/a | Stewart et al, 2009; [view data] |
| 529 | G848S1
| A467T2
| mtDNA depletion. severe hypoglycemia, liver biopsy shows micronodular cirrhosis. At 3 y 9 m, status epilepticus develops which occurs again at 4 y and is difficult to control. myoclonia. She dies from bronchopulmonary infection when 5 y old. COX negative fibers. | | | 0.25 | 4 | 5 | Roels et al, 2009; [view data] |
| 536 | S1104F1
| A467T2
| Epilepsy, Ataxia, Myopathy. | | - | movement disorder (ataxia) | |
| | n/a | 5 | n/a | Sitarz et al, 2014; [view data] |
| 537 | W748S5
| A467T2
| Ataxia, neuropathy, PEO, MIRAS. | | - | movement disorder (ataxia) | |
| | n/a | 39 | n/a | Sitarz et al, 2014; [view data] |
| 539 | A467T2
| W748S5
E1143G
| 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. | | - | movement disorder (ataxia) | |
| | 5 | 13 | 14 | Kollberg et al, 2006; [view data] |
| 540 | R574W2
| A467T2
| The girl was healthy and developed normally until one year of age when, during a mild respiratory infection, she had repeated multifocal partial seizures with clonic jerking and unconsciousness. The episode was later followed by the development of muscular hypotonia and of myoclonus. Mild psychomotor regression, ataxia, and slightly elevated serum transaminases were noticed. At 3 years of age, a mild infection provoked a prolonged status epilepticus, which lasted 3 weeks and included stroke-like features and rightsided hemiparesis. This was followed by a progressive deterioration of cognitive and motor functions and the development of ptosis and external ophthalmoplegia. Alpers. Febrile infections provoked repetitive status epilepticus with seizures in the form of migrating epilepsia partialis continua. mtDNA Deletions. | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 1 | 1.5 | 4.333 | Kollberg et al, 2006; [view data] |
| 541 | R574W2
| A467T2
| mtDNA Deletions. She was healthy until 7 months of age when she, in association with pyelonephritis, had onset of myoclonic seizures and weakness of the left arm and leg. leftsided myoclonic seizures progressing to status epilepticus in the form of migrating EPC and unconsciousness. pneumonia and colitis. | | | 0.583 | 1 | 1.166 | Kollberg et al, 2006; [view data] |
| 542 | G848S1
| A467T2
| Ragged Red Fibers, COX-Deficient Fibers. The boy had feeding difficulties with failure to thrive since 3 months of age. Delayed motor development. general muscle weakness and ataxia. compromised liver function. | | - | movement disorder (ataxia) | |
| | 0.33 | n/a | 1.33 | Kollberg et al, 2006; [view data] |
| 544 | G303R3
| A467T2
| Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction, | | | 0.916 | n/a | n/a | Sofou et al, 2012; [view data] |
| 545 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 15 | n/a | 44 | Tzoulis et al, 2014; [view data] |
| 546 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 8 | n/a | 47 | Tzoulis et al, 2014; [view data] |
| 547 | A467T2
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO | | - | movement disorder (ataxia) | |
| | 16 | n/a | 53 | Tzoulis et al, 2014; [view data] |
| 555 | W748S5
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 14 | n/a | 23 | Tzoulis et al, 2014; [view data] |
| 556 | W748S5
| A467T2
| Epilepsy, stroke-like episode, Ataxia, Neuropathy. | | - | movement disorder (ataxia) | |
| | 13 | n/a | 21 | Tzoulis et al, 2014; [view data] |
| 557 | G303R3
| A467T2
| Epilepsy, stroke-like episode. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2014; [view data] |
| 558 | G303R3
| A467T2
| Epilepsy, stroke-like episode, Ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2014; [view data] |
| 559 | G848S1
| A467T2
| Epilepsy, stroke-like episode. | | | 0.6 | n/a | 0.6 | Tzoulis et al, 2014; [view data] |
| 569 | L304R3
| A467T2
| psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia. | | | 16 | 28 | n/a | Van Goethem et al, 2001; [view data] |
| 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 25 | 38 | n/a | Van Goethem et al, 2001; [view data] |
| 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 24 | 34 | n/a | Van Goethem et al, 2001; [view data] |
| 572 | R3P
| A467T2
| ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, distal sensory neuropathy, areflexia. | | | 20 | 61 | n/a | Van Goethem et al, 2001; [view data] |
| 573 | R3P
| A467T2
| ptosis, opthalmoplegia, dysphonia, dysphagia, distal sensory neuropathy, areflexia. | | | 30 | 58 | n/a | Van Goethem et al, 2001; [view data] |
| 579 | A467T2
| A467T2
| early-onset ataxia, epilepsy, sensory neuropathy. | | - | movement disorder (ataxia) | |
| | 12.5 | n/a | n/a | Schicks et al, 2010; [view data] |
| 589 | A467T2
| A467T2
| 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. | | - | demyelinating neuropathy | |
| | 5 | n/a | 55 | Winterthun et al, 2005; [view data] |
| 590 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 17 | 49 | n/a | Winterthun et al, 2005; [view data] |
| 591 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 10 | 43 | n/a | Winterthun et al, 2005; [view data] |
| 592 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 16 | 39 | n/a | Winterthun et al, 2005; [view data] |
| 611 | Splice site
mutation:
IVS20nt+2T>C
| A467T2
| Seizures, Alpers syndrome, Jaundice at 9 months and liver enlargement. | | | 0.66 | n/a | n/a | Sarzi et al, 2007; [view data] |
| 612 | Frameshift:
c.975_976insCT326fsX387
| A467T2
| Myoclonus epilepsy, Epilepsy, Alpers syndrome, steatosis, death at 3 years | | | 3 | n/a | 3 | Sarzi et al, 2007; [view data] |
| 613 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 18 | n/a | 39 | Van Goethem et al, 2004; [view data] |
| 614 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Van Goethem et al, 2004; [view data] |
| 615 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | n/a | 47 | n/a | Van Goethem et al, 2004; [view data] |
| 616 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 12 | 52 | n/a | Van Goethem et al, 2004; [view data] |
| 618 | A467T2
| T251I
P587L2
| diabetes mellitus 2, congestive heart failure, hypothyroidism, hypertension, depression with psychotic features and gastric bypass surgery. gait difficulties, cognitive impairment, ophthalmoplegia, resting tremor and peripheral neuropathy. Shooting pains and numbness in her lower extremities, occasional rectal incontinence. Presyncopal dizziness. Complicated diabetic retinopathy. sensory ataxia secondary to a sensorimotor polyneuropathy, chronic supranuclear ophthalmoplegia, and a resting tremor of her right hand. bilateral ptosis and marked temporal muscle wasting. Her sensory examination found loss of pinprick sensation, temperature and vibration bilaterally up to her hips. She had bilateral vibration loss at her fingertips. She had loss of proprioception at her toes. She had bilateral dysdiadochokinesia with significant ataxia on finger to nose testing. Arreflexic in her lower extremities. On cognitive testing she was found to have moderate dementia with significant deficits in registration and construction as well as ideomotor apraxia. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 55 | 60 | n/a | Lovan et al, 2013; [view data] |
| 623 | Splice site
mutation:
c.2157+5_+6gc>ag
| A467T2
| Alpers, stroke, hypotonia, Dementia, developmental delay, seizures. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] |
| 624 | Q1236H
Frameshift:
p.T849H(insC)fs868X
| A467T2
| Alpers, chorea, microcephaly, leukodystrophy, Seizures, Dementia, developmental delay. | | | 1.5 | n/a | n/a | Wong et al, 2008; [view data] |
| 627 | Q497H2
W748S5
E1143G
| A467T2
| Hearing loss, Ataxia Neuropathy Spectrum, Seizures, dementia, developmental delay | | - | movement disorder (ataxia) | |
| | 17 | n/a | n/a | Wong et al, 2008; [view data] |
| 629 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Ataxia | | - | movement disorder (ataxia) | |
| | 2 | n/a | n/a | Wong et al, 2008; [view data] |
| 630 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Stroke | | | 2 | n/a | n/a | Wong et al, 2008; [view data] |
| 631 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Lactic acidosis, Cortical athrophy, hypoglycemia | | | 1.5 | n/a | n/a | Wong et al, 2008; [view data] |
| 632 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance | | - | movement disorder (ataxia) | |
| | 9 | n/a | n/a | Wong et al, 2008; [view data] |
| 633 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, hypotonia, failure to thrive | | | 0.8 | n/a | n/a | Wong et al, 2008; [view data] |
| 634 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] |
| 635 | Frameshift:
p.L424GfsX28
| A467T2
| Developmental delay, dementia, seizures, Alpers, Family history of acute liver failure | | | 1 | n/a | n/a | Wong et al, 2008; [view data] |
| 636 | Nonsense
mutation:
Q68X
| A467T2
| Developmental delay, dementia, seizures, Alpers, Ptosis, ataxia, visual hallucinations | | - | movement disorder (ataxia) | |
| | 3 | n/a | n/a | Wong et al, 2008; [view data] |
| 637 | Nonsense
mutation:
Q715X
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 4 | n/a | n/a | Wong et al, 2008; [view data] |
| 638 | T914P1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] |
| 645 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| His speech and motor development were normal until 19 months of age when he developed an episode of encephalopathy, ataxia, and hypertonia associated with an acute febrile illness. At 30 months, he developed a refractory focal myoclonic seizure disorder. His terminal admission was associated with a documented Rotavirus infection. At this time, he was noted to have cortical blindness, epilepsia partialis continua, and acute liver failure (hepatic failure). lactic acidemia. He was well until 19 months of age, when he experienced an acute febrile illness with anorexia, vomiting, and diarrhea. This was complicated by acute truncal ataxia, lethargy, and hypertonicity. | | - | movement disorder (ataxia) | |
| | 1.58 | n/a | 3.5 | Naviaux and Nguyen, 2004; [view data] |
| 646 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| He had been well and developmentally normal until 15 months when he suffered 3 days of a diarrheal illness and required admission for new ataxia and encephalopathy. On the day of admission, he developed status epilepticus and was intubated for 3 weeks for aspiration pneumonia. He developed progressive hepatic failure and cortical blindness. He remained in a vegetative state until he died. Autopsy showed massive cerebellar and cerebral atrophy. | | - | movement disorder (ataxia) | |
| | 1.25 | n/a | 1.3 | Naviaux and Nguyen, 2004; [view data] |
| 647 | Nonsense
mutation:
E873X
| A467T2
Nonsense
mutation:
E873X
| At 11 months, she developed otitis media and shortly thereafter she was admitted to the intensive care unit and intubated and treated for 2 days for apnea associated with an episode of absence status epilepticus. Brain computed tomography at that time was normal. Her gait was ataxic after recovery, and she had bouts of epilepsia partialis continua, initially involving the left hand. At 16 months, she suffered another episode of status epilepticus requiring intubation for airway protection and ventilatory support. Head control was lost permanently after this episode. she was found to have cortical blindness, and brain magnetic resonance imaging showed marked cerebral atrophy without focal abnormalities. A liver biopsy showed chronic and acute liver disease with micronodular cirrhosis, hepatocyte dropout, microvesicular fat, and bile ductular proliferation. The diagnosis of Alpers’ syndrome was made at that time. refractory partial seizures, scoliosis, quadriparesis, tracheomalacia, and osteoporosis and was aphasic. | | | 0.9 | n/a | 10 | Naviaux and Nguyen, 2004; [view data] |
| 648 | Nonsense
mutation:
R374X
| A467T2
| Epilepsy, hepatopathy, movement disorder (present but not prominent) | | - | movement disorder (ataxia) | |
| | 0.33 | n/a | n/a | Ashley et al, 2008; [view data] |
| 649 | Indel:
W347_L365del
| A467T2
| Epilepsy, hepatopathy, movement disorder (present but not prominent) | | - | movement disorder (ataxia) | |
| | 0.58 | n/a | n/a | Ashley et al, 2008; [view data] |
| 658 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.92 | Baruffini et al, 2011; [view data] |
| 659 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.42 | Baruffini et al, 2011; [view data] |
| 662 | A467T2
| A467T2
| 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. | | | 3 | n/a | 5.5 | Rajakulendran et al, 2016; [view data] |
| 663 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 6 | 16 | n/a | Rajakulendran et al, 2016; [view data] |
| 664 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 20 | 44 | n/a | Rajakulendran et al, 2016; [view data] |
| 665 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 24 | 31 | n/a | Rajakulendran et al, 2016; [view data] |
| 666 | Splice site
mutation:
c.1250+5G>C
| A467T2
| Parkinsons, PEO, short-term memory problems, general cerebral and cerebellar atrophy. | | | 50 | 81 | n/a | Martikainen et al, 2016; [view data] |
| 671 | A467T2
| A467T2
| 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. | | | 21 | 21 | 21.6 | Janssen et al, 2016; [view data] |
| 673 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 12 | 18 | 27 | Janssen et al, 2016; [view data] |
| 674 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 17 | 20 | 23 | Janssen et al, 2016; [view data] |
| 676 | W748S5
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 21 | 47 | n/a | Janssen et al, 2016; [view data] |
| 677 | W748S5
E1143G
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 18 | 18.7 | n/a | Janssen et al, 2016; [view data] |
| 684 | Nonsense
mutation:
E873X
| A467T2
| mtDNA depletion (30% in muscle), epilepsy, hepatopathy, movement disorder | | - | movement disorder (ataxia) | |
| | 1.5 | n/a | n/a | Ashley et al, 2008; [view data] |
| 688 | T914P1
| A467T2
| Hepatopathy | | | 15 | n/a | n/a | Ashley et al, 2008; [view data] |
| 689 | G848S1
| A467T2
| Hepatopathy, Epilepsy, Hepatopathy, | | | 1.5 | n/a | n/a | Ashley et al, 2008; [view data] |
| 690 | A467T2
| A467T2
| Epilepsy, ataxia | | - | movement disorder (ataxia) | |
| | 16 | n/a | n/a | Ashley et al, 2008; [view data] |
| 697 | A467T2
| A467T2
| 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. | | - | movement disorder (ataxia) | |
| | 7 | 18 | 19 | Simonati et al, 2003a; [view data] |
| 702 | G848S1
| A467T2
| He developed normally in the first 6 months. Refusal of food and failure to thrive were noted from the 7th month of life. At 1 year of age, increased transaminase levels in the blood were accompanied by liver enlargement and hyperecogenicity. Motor development was delayed. hypoglycaemic episodes and lactic acidosis. A liver biopsy at the age of 16 months revealed steatosis and fibrosis. At 20 months of age, he had numerous episodes of status epilepticus and epilepsia partialis continua. The patient died at 2.5 years of age during an episode of status epilepticus. Alpers’ syndrome. | | | 0.5 | n/a | 2.5 | Ferrari et al, 2005; [view data] |
| 703 | Splice site
mutation:
c.3482+2T>C
| A467T2
| mental and motor developmental delay. At the age of 7 years, strabismus convergens\\ occurred. headache and nausea and\\ then presented with a generalized tonic-clonic seizure. myoclonia, focal motor seizures evolved into epilepsia partialis continua. Alpers. During the first 4 months of his illness, the boy became blind and incontinent and lost his ability to walk freely. During the\\ ensuing years, a further slight loss of mental and motor capabilities and several episodes of status epilepticus occurred. | | | 4 | 11 | n/a | Flemming, et al 2002; [view data] |
| 704 | A957P1
| A467T2
| mild motor retardation was first noted at 6 months. At the age of 16 months, he was admitted to a local hospital for status epilepticus. At 18 months, generalized brain atrophy. epilepsia partialis continua, which was partially controlled by carbamazepine, later switched to oxcarbazepine. Elevated blood lactate. Alpers. He died at 2 years of age after severe complications from liver failure. | | | 0.5 | n/a | 2 | Ferrari et al, 2005; [view data] |
| 706 | Nonsense
mutation:
c.3626_3629dupGATA
| A467T2
| Alpers. At 1 year of age, she presented a rightsided clonic status epilepticus resistant to multiple antiepileptic drugs. Carbamazepine worsened myoclonic jerks. A ketogenic diet was well tolerated but was ineffective. At 12 months, dramatic psychomotor regression was observed with poor interaction, major global hypotonia and no eye contact due to cortical blindness. epilepsia partialis continua reinforced by recurrent episodes of tonic clonic seizures. At 16 months of age, liver enlargement was noticed associated with mild cytolysis. The patient died at 27 months of age of respiratory failure. | | | 0.5 | n/a | 2.25 | Mousson de Camaret et al, 2011 [view data] |