Article Text
Neurological rarities
Huntington’s disease-like 2: a phenocopy not to miss
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.
- Alzheimer’s disease
- dementia
- cerebellar ataxia
- movement disorders
- parkinson’s disease
- EMG
- leprosy
- motor neuron disease
- neurogenetics
- neuropathy
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