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38 patient data entries in database for mutations W748S and E1143G.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
168W748S5
E1143G
W748S5
E1143G
Onset 33 years with neuropathy, myopathy, SANDO, lactic acidosis, PEO.
-lactic acidosis
-myopathy
-PEO
adult
33n/an/aWong et al, 2008;

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278W748S5
E1143G
W748S5
E1143G
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
-ptosis
-ophthalmoplegia
-proximal weakness
adult
3233n/aMilone et al, 2011;

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279W748S5
E1143G
W748S5
E1143G
progressive unsteadiness,limb paresthesias, dysarthria, dysphagia, and weakness, ophthalmoparesis,dysarthria, palatal tremor, moderate axial and appendicular ataxia, and distal pan-modality sensory loss
-movement disorder (ataxia)
-PEO
-dysphagia
-dysarthria
-tremor
adult
3233n/aMilone et al, 2011;

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365W748S5
E1143G
W748S5
E1143G
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysphagia
-dysarthria
-nystagmus
juvenile
1637n/aHakonen et al, 2005;

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366W748S5
E1143G
W748S5
E1143G
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-headache/ migraine
-dysphagia
-dysarthria
-nystagmus
adult
2851n/aHakonen et al, 2005;

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367W748S5
E1143G
W748S5
E1143G
Onset with tremor, Gait and limb ataxia, Epilepsy, Myoclonus, Involuntary movements, Dysarthria, eye muscle weakness, Cognitive impairment, Psychiatric symptoms, Muscle strength decreased.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-muscle weakness
-dysarthria
-tremor
childhood
5n/a35Hakonen et al, 2005;

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368W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances, Gait and limb ataxia, Dysarthria, Dysphagia, Nystagmus, diplopia, Cognitive impairment, Muscle strength decreased, sensory neural hearing deficit, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysphagia
-dysarthria
-nystagmus
adult
3246n/aHakonen et al, 2005;

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369W748S5
E1143G
W748S5
E1143G
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
juvenile
1944n/aHakonen et al, 2005;

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370W748S5
E1143G
W748S5
E1143G
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
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
adult
2742n/aHakonen et al, 2005;

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371W748S5
E1143G
W748S5
E1143G
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
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
-nystagmus
-tremor
adult
2738n/aHakonen et al, 2005;

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372W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, Dysarthria, Dysphagia, other eye-movement abnormalities, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysphagia
-dysarthria
adult
4158n/aHakonen et al, 2005;

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373W748S5
E1143G
W748S5
E1143G
Onset with neuropathy, Gait and limb ataxia, tremor, Dysarthria, Nystagmus, Psychiatric symptoms, Muscle strength decreased, amyotrophy, pes cavus, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
3651n/aHakonen et al, 2005;

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374W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Dysarthria, restricted eye movements, ptosis, Cognitive impairment, Obesity, cramps, sensory motor polyneuropathy
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-dysarthria
adult
3844n/aHakonen et al, 2005;

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375W748S5
E1143G
W748S5
E1143G
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-dysarthria
-nystagmus
-tremor
juvenile
1745n/aHakonen et al, 2005;

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376W748S5
E1143G
W748S5
E1143G
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
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-nystagmus
-tremor
adult
2345n/aHakonen et al, 2005;

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377W748S5
E1143G
W748S5
E1143G
Onset with balance disturbances and neuropathy, Gait and limb ataxia, Myoclonus, tremor, Dysarthria, restricted eye movements, Cognitive impairment, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-myoclonic seizures
-movement disorder (ataxia)
-polyneuropathy
-dysarthria
-tremor
adult
3851n/aHakonen et al, 2005;

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378W748S5
E1143G
W748S5
E1143G
Onset with epilepsy, Gait and limb ataxia, Epilepsy, Dysarthria, Nystagmus, diplopia, Psychiatric symptoms, Obesity, sensory motor polyneuropathy
-epilepsy
-movement disorder (ataxia)
-polyneuropathy
-diplopia
-dysarthria
-nystagmus
adult
2455n/aHakonen et al, 2005;

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390W748S5
E1143G
W748S5
E1143G
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
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
-nystagmus
childhood
8n/a9Tzoulis et al, 2006;

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391W748S5
E1143G
W748S5
E1143G
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.
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-liver dysfunction
-headache/ migraine
childhood
8n/a9Tzoulis et al, 2006;

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392W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, status epilepticus, nystagmus, neuropathy
-status epilepticus
-epilepsy
-nystagmus
juvenile
1718n/aTzoulis et al, 2006;

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393W748S5
E1143G
W748S5
E1143G
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-liver dysfunction
-headache/ migraine
childhood
4n/a30Tzoulis et al, 2006;

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394W748S5
E1143G
W748S5
E1143G
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.
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-liver failure
-headache/ migraine
-nystagmus
childhood
10n/a22Tzoulis et al, 2006;

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395W748S5
E1143G
W748S5
E1143G
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
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
15n/a57Tzoulis et al, 2006;

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396W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, nystagmus, neuropathy, PEO/ Ptosis onset age >30
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
-nystagmus
childhood
1238n/aTzoulis et al, 2006;

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397W748S5
E1143G
W748S5
E1143G
Presented with epilepsy, ataxia, status epilepticus, headaches, myoclonus, neuropathy
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
juvenile
1819n/aTzoulis et al, 2006;

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398W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, neuropathy
-status epilepticus
-epilepsy
-movement disorder (ataxia)
-headache/ migraine
-nystagmus
juvenile
1727n/aTzoulis et al, 2006;

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399W748S5
E1143G
W748S5
E1143G
Presented with migraine like headaches, ataxia, epilepsy, status epilepticus, nystagmus, myoclonus, neuropathy, ptosis/ PEO onset at age 26
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
-nystagmus
juvenile
1738n/aTzoulis et al, 2006;

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400W748S5
E1143G
W748S5
E1143G
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
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-ptosis
-PEO
-liver failure
-headache/ migraine
juvenile
1933n/aTzoulis et al, 2006;

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414W748S5
E1143G
W748S5
E1143G
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
-movement disorder (ataxia)
-cerebellar atrophy
-polyneuropathy
-PEO
-dysphagia
-dystonia
-tremor
adult
4665n/aRemes et al, 2008;

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415W748S5
E1143G
W748S5
E1143G
Headache, visual symptoms, migraine-like headache, Athetosis, nystagmus, emiparesis, valproic acid induced Liver failure, sepsis, pancreatitis, status epilepticus
-status epilepticus
-liver failure
-headache/ migraine
-pancreatitis
-nystagmus
juvenile
1415n/aUusimaa et al, 2008;

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416W748S5
E1143G
W748S5
E1143G
Seizures, status epilepticus, visual symptoms, nystagmus, valproic acid induced liver failure
-status epilepticus
-liver failure
-nystagmus
juvenile
1721n/aUusimaa et al, 2008;

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417W748S5
E1143G
W748S5
E1143G
Migraine like headaches, visual symptoms, focal generalized seizures, severe liver failure, valproate induced liver failure
-liver failure
-headache/ migraine
juvenile
15n/a20Uusimaa et al, 2008;

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452W748S5
E1143G
W748S5
E1143G
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.
-movement disorder (ataxia)
-polyneuropathy
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
-dysarthria
adult
35n/a56Palin et al, 2012;

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454W748S5
E1143G
W748S5
E1143G
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.
-movement disorder (ataxia)
-polyneuropathy
childhood
541n/aPalin et al, 2012;

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593W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
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.
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-dysarthria
-nystagmus
adult
2338n/aWinterthun et al, 2005;

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594W748S5
Q497H2
E1143G
W748S5
Q497H2
E1143G
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.
-epilepsy
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
-vomiting
-dysarthria
-nystagmus
juvenile
1518n/aWinterthun et al, 2005;

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617W748S5
E1143G
W748S5
E1143G
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.
-movement disorder (ataxia)
-demyelinating neuropathy
-dysarthria
adult
3033n/aVan Goethem et al, 2004;

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672W748S5
E1143G
W748S5
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.
-myoclonic seizures
-focal seizures
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
-dysarthria
adult
262833.5Janssen et al, 2016;

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1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

Number of displayed patient cases: 38
Avg age of onset in displayed cases: 22.1
Std dev in onset in displayed cases: 10.7

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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