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Article

[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

Fortschritte der Neurologie-Psychiatrie - 1 May 2017

Schneider Christian, Danek Adrian, Hostmann Arwed, Fink Gereon R, Burghaus Lothar

Abstract excerpt

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency or through molecular genetics (VPS13A mutation). Die Chorea-Akanthozytose ist eine seltene neurodegenerative...

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Identifiers

PMID: 28561176
DOI: 10.1055/s-0042-123042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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