## Abstract Spinocerebellar ataxia type 17 (SCA17) is caused by expansion of a CAG/CAA repeat in the __TBP__ gene. Most pathogenic alleles are interrupted and are stably transmitted from parent to offspring without anticipation. We identified three SCA17 families with expansion of uninterrupted all
Anticipation in spinocerebellar ataxia type 2
✍ Scribed by Pulst, Stefan-M.; Nechiporuk, Alex; Starkman, Sid
- Book ID
- 109916908
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 212 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1061-4036
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The inherited neurodegenerative disorders such as the spinocerebellar ataxias, Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinal and bulbar muscular atrophy associated with CAG/polyglutamine repeat expansion have been reported to exhibit intranuclear inclusions (NIs) in neurons.