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spinocerebellar ataxia, autosomal recessive 4 (SCAR4, SCASI)
Genetics:
- chromosome 1p36
Clinical manifestations:
- features of spinocerebellar ataxia
- progressive ataxia beginning in the 3rd decade with gait unsteadiness & difficulty reading
- eventually gait ataxia, trunk ataxia, & limb ataxia
- pyramidal tract signs
- hyperreflexia, extensor plantar responses
- myoclonic jerks, fasciculations
- cerebellar dysarthria
- mild pes cavus
- disturbance of eye movements
- horizontal macrosaccadic oscillations of a high velocity induced with each gaze shift
- all sensory modalities, including vibration, joint position, pain & temperatyre sensation impaired over the feet & calves
General
spinocerebellar ataxia, autosomal recessive
Database Correlations
OMIM 607317
Entrez Gene 260415
References
- OMIM :accession 607713