Huntington's disease-like 2: a phenocopy not to miss.

Authors :: De Oliveira DS
Santos DP
Araujo DO
Tomaselli PJ
Júnior WM
Vale TC
Source :: Practical neurology [Pract Neurol] 2020 Dec; Vol. 20 (6), pp. 479-481. Date of Electronic Publication: 2020 Sep 29.
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.<br />Competing Interests: Competing interests: None declared.<br /> (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)