Spinocerebellar Ataxia Type 2
Year: 2006
Type: book-chapter
Abstract: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease caused by CAG repeat expansion in the first coding exon of the ATXN2 gene. The mutation results in an expanded polyglutamine (polyQ) domain. SCA2 is characterized by progressive ataxia and involves primarily Purkinje cells (PCs) but also other neurological systems. Depending on the length of the CAG repeats, ATXN2 repeat expansions can act as recessive, dominant, or risk alleles (reviewed in Pulst, ). With a focus on work in our group, this chapter describes the characteristics of SCA2 patients and reviews ATXN2 molecular features and animal models as well as progress toward the identification of treatments for SCA2.
Author: Stefan M. Pulst
Institution: University of Utah
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W2332567022