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4 patient data entries collated from reference Schulte et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
123W748S5
A467T2
Dysarthria, sensory neuropathy, PEO, minor cognitive dysfunction, depression.
-PEO
-dysarthria
adult
n/a34n/a
144R1096H3
R627Q5
At 43 years of age, cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, mild cerebellar atrophy.
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
-dysphagia
-dysarthria
-distal muscle wasting
adult
4325n/a
147G848S1
R627Q5
At 35 years of age, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, phobia anxiety disorder, mild cerebellar atrophy (MRI)
-cerebellar atrophy
-PEO
-dysphagia
-dysarthria
-distal muscle wasting
adult
3529n/a
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
n/a22n/a

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.

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