You are here

Article Text

Article menu
Download PDFPDF
A difficult case
Chorea-acanthocytosis
  1. Sana Rashid,
  2. Naveed Malek,
  3. Magdalini Krommyda
  1. Department of Neurology, Queen's Hospital, Romford, UK
  1. Correspondence to Dr Magdalini Krommyda, Department of Neurology, Queen's Hospital, Romford RM7 0AG, UK; magdalini.krommyda{at}nhs.net

Abstract

A middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated but electromyography showed no evidence of myopathy. Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in VPS13A gene, consistent with autosomal recessive chorea-acanthocytosis.

  • DYSTONIA
  • NEUROPATHY
  • MOVEMENT DISORDERS
  • NEUROGENETICS

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/pn-2023-003981

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.

    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

    View Full Text

    Footnotes

    • Contributors All authors contributed equally to the manuscript.

    • 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.

    • Provenance and peer review Not commissioned. Externally reviewed by Sundus Alusi, Liverpool, UK.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

    Other content recommended for you