Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders

Cytogenet Genome Res. 2003;100(1-4):147-53. doi: 10.1159/000072849.

Abstract

Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q. SCA6 is associated with small expansions of a CAG repeat at the 3' end of the gene, while point mutations are responsible for its two allelic disorders (Episodic Ataxia type 2 and Familial Hemiplegic Migraine). Genetic, clinical, pathological and pathophysiological data of SCA6 patients are reviewed and compared to those of other SCAs with expanded CAG repeats as well as to those of its allelic channelopathies, with particular reference to Episodic Ataxia type 2. Overall SCA6 appears to share features with both types of disorders, and the question as to whether it belongs to polyglutamine disorders or to channelopathies remains unanswered at present.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Ataxia / genetics*
  • Ataxia / pathology
  • Calcium Channels / genetics*
  • Humans
  • Point Mutation
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / pathology
  • Trinucleotide Repeat Expansion / genetics

Substances

  • CACNA1A protein, human
  • Calcium Channels