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spinocerebellar ataxia, autosomal recessive 1; spinocerebellar ataxia, non-Friedreich type 1 (SCAR1)
Genetics:
- chromosome 9q34
- autosomal recessive
Clinical manifestations:
- features of spinocerebellar ataxia
- juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy
- oculomotor apraxia is common, but inconsistent
Laboratory:
- increased serum alpha-fetoprotein
General
spinocerebellar ataxia, autosomal recessive
Database Correlations
OMIM 606002
Entrez Gene 85506
References
- OMIM :accession 606002