Chorea-acanthocytosis.
| Autor: | Rashid S; Department of Neurology, Queen's Hospital, Romford, UK., Malek N; Department of Neurology, Queen's Hospital, Romford, UK., Krommyda M; Department of Neurology, Queen's Hospital, Romford, UK magdalini.krommyda@nhs.net. |
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| Jazyk: | angličtina |
| Zdroj: | Practical neurology [Pract Neurol] 2024 May 29; Vol. 24 (3), pp. 223-225. Date of Electronic Publication: 2024 May 29. |
| DOI: | 10.1136/pn-2023-003981 |
| Abstrakt: | 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. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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