Articles In The Fields Of Biochemistry And Physiology, Cell Biology, Developmental Biology, Ecology, Evolution, Genetics, Immunology, Molecular Biology, Neuroscience, Microbiology And Virology, Plant Science, Structural Biology, Science And Society. Includes Index.
The clinical diagnosis of autosomal dominant spinocerebellar ataxias
β Scribed by Thomas Klockgether
- Book ID
- 107648201
- Publisher
- Springer-Verlag
- Year
- 2008
- Tongue
- English
- Weight
- 177 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1473-4222
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Autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders clinically characterized by late-onset ataxia and variable other manifestations. Genetically and clinically, SCA is highly heterogeneous. Recently, CAG repeat expansions in the gene encoding TATA-binding pro
## Abstract Dominant ataxias show wide geographic variation. We analyzed 108 dominant families and 123 sporadic ataxia patients from Mexico for mutations causing SCA1β3, 6β8, 10, 12, 17 and DRPLA. Only 18.5% of dominant families remained undiagnosed; SCA2 accounted for half (45.4%), followed by SCA