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Autosomal Recessive Ataxia, Beauce Type (MONDO:0012549)

Open Trait in OLS

A 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.

Overview

Category

nervous system disorder

Ontology ID

Internal:13597

Synonyms

ARCA1

SCAR8

autosomal recessive cerebellar ataxia type 1

spinocerebellar ataxia, autosomal recessive type 8

SYNE1-related autosomal recessive cerebellar ataxia

ataxia, recessive, of Beauce

autosomal recessive ataxia Beauce type

autosomal recessive spinocerebellar ataxia 8

cerebellar ataxia, autosomal recessive, type 1

recessive ataxia of Beauce

spinocerebellar ataxia autosomal recessive 8

spinocerebellar ataxia, autosomal recessive 8

Mapped terms

DOID:0111618

GARD:0012234

MEDGEN:343973

OMIM:610743

Orphanet:88644

UMLS:C1853116

Child terms

Unknown children.