Juvenile dentatorubral-pallidoluysian atrophy: new clinical features
โ Scribed by Daniel J Licht; David R Lynch
- Book ID
- 117590973
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 142 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0887-8994
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## Abstract We describe the first Danish family with dentatorubralโpallidoluysian atrophy (DRPLA), containing 16 clinically affected individuals in five generations. Inheritance is autosomal dominant. The disorder was diagnosed as Huntington's (HD), but analysis of the IT15 gene for HD revealed nor
## Abstract Dentatorubralโpallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a g