Abstract
Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive, dominantly inherited neurodegenerative disease. SCA8 patients have large CTG repeat expansions in the untranslated antisense RNA of the Kelch-like 1 gene (KLHL1AS), but the precise relationship between this expansion and disease is complex and is still poorly understood.
| Original language | English (US) |
|---|---|
| Title of host publication | Encyclopedia of Movement Disorders |
| Publisher | Elsevier Inc. |
| Pages | 78-80 |
| Number of pages | 3 |
| ISBN (Electronic) | 9780123741059 |
| ISBN (Print) | 9780123741011 |
| DOIs | |
| State | Published - Jan 1 2010 |
Bibliographical note
Publisher Copyright:© 2010 Elsevier Ltd. All rights reserved.
Keywords
- Antisense RNA
- Ataxia
- CTG
- KLHL1
- KLHL1AS
- Spinocerebellar ataxia
- Trinucleotide expansion mutation