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- W884027551 abstract "Spinocerebellar ataxia type 2 (SCA2) is autosomal dominantly inherited and caused by CAG repeat expansion in the ATXN2 gene. Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expanded polyglutamine (polyQ) tract in the ATXN2 protein. SCA2 is characterized by progressive ataxia, and slow saccades. No treatment for SCA2 exists. ATXN2 mutation causes gains of new or toxic functions for the ATXN2 protein, resulting in abnormally slow Purkinje cell (PC) firing frequency and ultimately PC loss. This chapter describes the characteristics of SCA2 patients briefly, and reviews ATXN2 molecular features and progress toward the identification of a treatment for SCA2." @default.
- W884027551 created "2016-06-24" @default.
- W884027551 creator A5049001893 @default.
- W884027551 creator A5056686380 @default.
- W884027551 date "2018-01-01" @default.
- W884027551 modified "2023-10-16" @default.
- W884027551 title "Spinocerebellar Ataxia Type 2" @default.
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- W884027551 doi "https://doi.org/10.1007/978-3-319-71779-1_8" @default.
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