Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders
- 1 July 2003
- journal article
- research article
- Published by S. Karger AG in Cytogenetic and Genome Research
- Vol. 100 (1-4) , 147-153
- https://doi.org/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.Keywords
This publication has 27 references indexed in Scilit:
- Difference in disease‐free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patientsAmerican Journal of Medical Genetics, 2002
- Functional Consequences of P/Q-type Ca2+Channel Cav2.1 Missense Mutations Associated with Episodic Ataxia Type 2 and Progressive AtaxiaJournal of Biological Chemistry, 2002
- A fine physical map of the CACNA1A gene region on 19p13.1–p13.2 chromosomeGene, 2000
- Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic casesHuman Genetics, 1999
- Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: Implications for Huntington’s disease pathologyProceedings of the National Academy of Sciences, 1999
- Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6Clinical Genetics, 1998
- Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel GeneAmerican Journal of Human Genetics, 1997
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 1997
- Chromosomal Localization of the Human Genes for α1A, α1B, and α1E Voltage-Dependent Ca2+ Channel SubunitsGenomics, 1995
- Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individualsNature Genetics, 1995