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25 patient data entries in database for clusters A467T and W748S in age group "adult".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
384E1143G
W748S5
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, neuropathy, PEO ptosis onset age 25
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
2443n/aTzoulis et al, 2006;

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676W748S5
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)
-peripheral neuropathy
-PEO
-areflexia
adult
2147n/aJanssen et al, 2016;

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537W748S5
A467T2
Ataxia, neuropathy, PEO, MIRAS.
-movement disorder (ataxia)
-PEO
adult
n/a39n/aSitarz et al, 2014;

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516W748S5
A467T2
Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease.
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-myopathy
-PEO
-encephalopathy
-dementia
-dysarthria
adult
2024n/aLax et al, 2012b;

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506W748S5
A467T2
Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
4145n/aHanisch et al, 2014;

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505W748S5
A467T2
Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy.
-movement disorder (ataxia)
-demyelinating neuropathy
-ptosis
adult
4956n/aHanisch et al, 2014;

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469W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
2450n/aTzoulis et al, 2013;

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468W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
3658n/aTzoulis et al, 2013;

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459W748S5
A467T2
abnormal gait, ataxia, PEO, and jerky torticollis, mild cerebellar atrophy, sensory neuronopathy.
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
adult
4345n/aTuladhar et al, 2013;

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455A467T2
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)
-ophthalmoplegia
-dysarthria
adult
3747n/aPosada et al, 2010;

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413A467T2
W748S5
E1143G
Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
3637n/aPaus et al, 2008;

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412A467T2
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,
-status epilepticus
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-ptosis
-PEO
-diplopia
-headache/ migraine
-dysarthria
adult
2839n/aPaus et al, 2008;

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387W748S5
E1143G
A467T2
Presented with progressive gait unsteadiness, ataxia, headaches, myoclonus, neuropathy, PEO, ptosis onset at age 44
-myoclonic seizures
-movement disorder (ataxia)
-ptosis
-PEO
-headache/ migraine
adult
3650n/aTzoulis et al, 2006;

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79W748S5
E1143G
A467T2
Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-PEO
-dysarthria
adult
n/a47n/aBlok et al, 2009;

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383W748S5
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.
-status epilepticus
-epilepsy
-liver failure
-liver dysfunction
-headache/ migraine
-nystagmus
adult
20n/a20Tzoulis et al, 2006;

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364W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle,
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
adult
2024n/aLax et al, 2012a;

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362W748S5
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)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
adult
4148n/aLax et al, 2012a;

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360W748S5
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
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
adult
3447n/aLax et al, 2012a;

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344A467T2
W748S5
ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis
-movement disorder (ataxia)
-PEO
-dysarthria
adult
3050n/aPelayo-Negro et al, 2012;

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341A467T2
W748S5
Diplopia, partial ophthalmoparesis in all directions of gaze and dysarthria, sensory neuropathy, COX-deficient fibers, multiple mtDNA deletions,
-PEO
-diplopia
-dysarthria
adult
n/a50n/aKinghorn et al, 2012;

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338W748S5
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)
-sensory ataxia
-demyelinating neuropathy
-ophthalmoplegia
-external ophthalmoplegia
-headache/ migraine
-dysarthria
-areflexia
adult
2348n/aHansen et al, 2012;

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129W748S5
A467T2
Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
-myoclonic seizures
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-cognitive delay
adult
n/a40n/aBlok et al, 2009;

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124W748S5
A467T2
PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
-dysarthria
-bilateral deafness
adult
39n/an/aStewart et al, 2009;

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123W748S5
A467T2
Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
-PEO
-dysarthria
adult
34n/an/aSchulte et al, 2009;

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122W748S5
A467T2
Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
-movement disorder (ataxia)
-myopathy
-PEO
-dysphagia
adult
34n/an/aHorvath et al, 2006;

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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: 25
Avg age of onset in displayed cases: 33.8
Std dev in onset in displayed cases: 9.1

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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