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1 patient data entry collated from reference Paucar et al, 2016.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
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
-hearing loss

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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