Autosomal recessive ataxia, Beauce type

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Autosomal recessive ataxia, Beauce type

Synonyms: ARCA1 | Autosomal recessive cerebellar ataxia type 1 | SCAR8

A rare disorder characterised 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 <i<SYNE1 gene mutations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Autosomal recessive ataxia, Beauce type?

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