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Huntington's disease-like 2: a phenocopy not to miss.
- Source :
- Practical Neurology; Dec2020, Vol. 20 Issue 6, p479-481, 3p
- Publication Year :
- 2020
-
Abstract
- A 67-year-old Brazilian man of African ancestry and his 60-year-old sister both presented with choreiform movements, although in the man these were significantly overshadowed by additional parkinsonism. The man also had a history of four epileptic seizures. Neurological examination in each also found slow saccades and a dysexecutive syndrome. Genetic tests for Huntington's disease were negative but were positive for Huntington's disease-like 2. There are various genetic causes of chorea diseases, and their correct identification is important for appropriate clinical management and genetic counselling. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 14747758
- Volume :
- 20
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- Practical Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 147270355
- Full Text :
- https://doi.org/10.1136/practneurol-2020-002590