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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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