Details of Disease

General Information of Disease (ID: DIS5TSG6)

• Disease Name: Autosomal recessive ataxia, Beauce type
• Synonyms: spinocerebellar ataxia, autosomal recessive 8; cerebellar ataxia, autosomal recessive, type 1; autosomal recessive ataxia Beauce type; ataxia, recessive, of Beauce; autosomal recessive spinocerebellar ataxia 8; spinocerebellar ataxia autosomal recessive 8; recessive ataxia of Beauce; SYNE1-related autosomal recessive cerebellar ataxia; autosomal recessive cerebellar ataxia type 1; ARCA1; SCAR8; spinocerebellar ataxia, autosomal recessive type 8
• Definition: 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.
• Disease Hierarchy:
  DISWBOUC: Autosomal recessive cerebellar ataxia
  DIS5TSG6: Autosomal recessive ataxia, Beauce type
• Disease Identifiers:
  MONDO ID: MONDO_0012549
  MESH ID: C565188
  UMLS CUI: C1853116
  OMIM ID: 610743
  MedGen ID: 343973
  Orphanet ID: 88644

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SYNE1	OTSBSLUH	Definitive	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.