Login / Signup

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

Daniel Sabino De OliveiraDaniela Pereira SantosDaniel Oliveira AraujoPedro José TomaselliWIlson Marques JúniorThiago Cardoso Vale
Published in: Practical neurology (2020)
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.
Keyphrases
  • genome wide
  • copy number
  • dna methylation
  • blood brain barrier
  • smoking cessation
  • men who have sex with men
  • drug induced