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66 patient data entries in database for clusters W748S and W748S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
552W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
2n/a13Tzoulis et al, 2014;

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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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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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462W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
6n/a41Tzoulis et al, 2013;

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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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465W748S5
W748S5
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
childhood
1245n/aTzoulis et al, 2013;

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466W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
12n/a28Tzoulis et al, 2013;

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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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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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548W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
6n/a41Tzoulis et al, 2014;

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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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551W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
childhood
12n/a28Tzoulis et al, 2014;

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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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580W748S5
W748S5
early-onset ataxia, epilepsy, sensory neuropathy.
-epilepsy
-movement disorder (ataxia)
childhood
12.5n/an/aSchicks et al, 2010;

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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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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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156W748S5
W748S5
reported as Alpers, onset at 16 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 108% mtDNA copy number in muscle.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
juvenile
16n/an/aAshley et al, 2008;

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463W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
17n/a43Tzoulis et al, 2013;

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410W748S5
W748S5
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
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-peripheral neuropathy
-ophthalmoplegia
-external ophthalmoplegia
-liver failure
-dysarthria
-tremor
juvenile
1935n/aJohansen 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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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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464W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy.
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-stroke
-stroke-like episodes
juvenile
1734n/aTzoulis et al, 2013;

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467W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
16n/a24Tzoulis et al, 2013;

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549W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy
-epilepsy
-movement disorder (ataxia)
-stroke
juvenile
15n/a24Tzoulis et al, 2014;

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550W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
17n/a43Tzoulis et al, 2014;

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553W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
16n/a24Tzoulis et al, 2014;

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554W748S5
W748S5
Epilepsy, stroke-like episode, Ataxia, Neuropathy, PEO.
-epilepsy
-movement disorder (ataxia)
-PEO
-stroke
juvenile
15n/a57Tzoulis et al, 2014;

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675W748S5
W748S5
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.
-status epilepticus
-focal seizures
-movement disorder (ataxia)
-areflexia
-nystagmus
juvenile
172020Janssen et al, 2016;

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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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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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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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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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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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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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343W748S5
W748S5
ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
-movement disorder (ataxia)
-PEO
-dysarthria
adult
3051n/aPelayo-Negro et al, 2012;

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157W748S5
W748S5
cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, epilepsy, moderate cerebellar atrophy.
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
-dysphagia
-dysarthria
adult
22n/an/aSchulte et al, 2009;

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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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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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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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162W748S5
S28C
W748S5
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.
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-ptosis
-PEO
-headache/ migraine
-GI dysmotility
-hearing loss
adult
n/a25n/aTang et al, 2011;

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575W748S5
W748S5
PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy.
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
-dysarthria
adult
22n/an/aSchicks et al, 2010;

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158W748S5
W748S5
Ataxia, peripheral neuropathy, exercise intolerance, easy fatigueability, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood.
-movement disorder (ataxia)
-cerebellar atrophy
-peripheral neuropathy
-exercise intolerance
adult
n/a30n/aTang et al, 2011;

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581W748S5
W748S5
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.
-myoclonic seizures
-movement disorder (ataxia)
-ophthalmoplegia
-external ophthalmoplegia
-dystonia
adult
33n/an/aSynofzik et al, 2010;

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582W748S5
W748S5
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.
-movement disorder (ataxia)
-ophthalmoplegia
-external ophthalmoplegia
-dysarthria
-dystonia
adult
40n/an/aSynofzik et al, 2010;

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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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656W748S5
W748S5
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.
-movement disorder (ataxia)
-nystagmus
-hearing loss
adult
n/a30n/aArkadir et al, 2015;

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668W748S5
W748S5
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.
-movement disorder (ataxia)
-PEO
-dysarthria
-areflexia
adult
2429n/aHenao et al, 2016;

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670W748S5
W748S5
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.
-myoclonic seizures
-movement disorder (ataxia)
-sensory ataxia
-diplopia
-areflexia
-nystagmus
-hearing loss
adult
4860n/aPaucar et al, 2016;

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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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347W748S5
S28C
W748S5
migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss,
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-ptosis
-PEO
-headache/ migraine
-hearing loss
adult
n/a25n/aTang et al, 2012;

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538W748S5
W748S5
Ataxia, neuropathy, PEO, MIRAS.
-movement disorder (ataxia)
-PEO
adult
n/a36n/aSitarz et al, 2014;

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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;

[view data]

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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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;

[view data]

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;

[view data]

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;

[view data]

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;

[view data]

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;

[view data]

441W748S5
W748S5
Parkinsonism, multiple mtDNA deletions. SANDO, Sensory ataxic neuropathy dysarthria and ophtalmoparesis.
-sensory ataxia
-parkinson's disease
-dysarthria
adult
37n/an/aRouzier et al, 2013;

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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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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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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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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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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: 66
Number of patient cases marked as outliers: 1 (cases excluded from avg: 552)
Avg age of onset in displayed cases: 22.0
Std dev in onset in displayed cases: 10.6

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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