Machado-joseph disease/spinocerebellar ataxia 3 responsive to buspirone
β Scribed by Dr. Joseph H. Friedman
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 230 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
When patients were divided according to the different Hoehn and Yahr stages, correlations were significant in all stages (I, R = 0.95; 11, R = 0.89; 11, R = 0.82; IV, R = 0.80; V, R = 0.80).
Results of both scales were highly correlated in Parkinson's disease and other fonns of parkinsonism. such as multiple system atrophy, progressive supranuclear palsy, and neurolepticinduced parkinsonism, among others. In Parkinson's disease, patient correlation proved to be significant in both "on" and "off" states and in the different Hoehn and Yahr stages.
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An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d