Chapter title |
Spinocerebellar Ataxia Type 2
|
---|---|
Chapter number | 8 |
Book title |
Polyglutamine Disorders
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-71779-1_8 |
Pubmed ID | |
Book ISBNs |
978-3-31-971778-4, 978-3-31-971779-1
|
Authors |
Daniel R. Scoles, Stefan M. Pulst |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 73 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 14 | 19% |
Researcher | 8 | 11% |
Student > Ph. D. Student | 7 | 10% |
Student > Master | 5 | 7% |
Student > Doctoral Student | 2 | 3% |
Other | 7 | 10% |
Unknown | 30 | 41% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 14 | 19% |
Medicine and Dentistry | 9 | 12% |
Neuroscience | 7 | 10% |
Agricultural and Biological Sciences | 4 | 5% |
Computer Science | 2 | 3% |
Other | 5 | 7% |
Unknown | 32 | 44% |