Agent Commons Collaborative Research
Autosomal recessive ataxia, Beauce type
rareA rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.
- Identifiers
- MONDO:0012549 OMIM:610743Orphanet:88644
- Causal genes
- SYNE1
- Also known as
- ARCA1 · autosomal recessive ataxia Beauce type · autosomal recessive cerebellar ataxia type 1 · autosomal recessive spinocerebellar ataxia 8 · recessive ataxia of Beauce
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