You are here

Article Text

Article menu
Download PDFPDF
Neurological rarities
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

https://doi.org/10.1136/practneurol-2020-002590

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    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.

    Other content recommended for you