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Huntington’s disease-like 2: a phenocopy not to miss
  1. Daniel Sabino De Oliveira1,
  2. Daniela Pereira Santos1,
  3. Daniel Oliveira Araujo1,
  4. Pedro José Tomaselli2,
  5. WIlson Marques Júnior2,
  6. Thiago Cardoso Vale
  1. 1 Neurology Service, University Hospital, Universidade Federal de Juiz de Fora, Juiz de Fora, Brazil
  2. 2 Neurology Department, USP Ribeirão Preto, Ribeirão Preto, Brazil
  1. Correspondence to Thiago Cardoso Vale, Movement Disorders Unit, Service of Neurology Universidade Federal de Juiz de Fora; thiagocardosovale{at}hotmail.com

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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Footnotes

  • Contributors 1. Case report project: A. Conception, B. Organization, C. Execution

    2. Data collection: A. Case Report B. Genetic Analysis

    3. Manuscript: A. Writing of the first draft, B. Review and Critique

    ODS: 1A, 1B, 1C, 2A, 3A, 3B.

    SDP: 1A, 1B, 1C, 2A, 3A.

    ADO: 1A, 1B, 1C, 2A, 3A.

    TPJ: 2A, 2B, 3B.

    JWM: 2A, 2B, 3B.

    VTC: 1A, 1B, 1C, 2A, 3A, 3B.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Consent obtained from parent(s)/guardian(s).

  • Provenance and peer review Not commissioned. Externally peer reviewed by Anne Rosser, Cardiff, UK, and Edward Wild, London, UK.

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