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spinocerebellar ataxia type 8R (SCAR8, autosomal recessive cerebellar ataxia type 1/8, recessive ataxia of Beauce)
Pathology:
- degeneration of the cerebellum
- variable involvement of the brainstem & spinal cord
Genetics:
- asutosomal recessive
- associated with defects in SYNE1
Clinical manifestations:
- progressive incoordination of gait & often poor coordination of hands, speech & eye movements
General
spinocerebellar ataxia (SCA)
Database Correlations
OMIM 610743
References
OMIM :accession 610743