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Review
. 2017 May;85(5):270-273.
doi: 10.1055/s-0042-123042. Epub 2017 May 23.

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

[Article in German]
Christian Schneider  1 , Adrian Danek  2 , Arwed Hostmann  3 , Gereon R Fink  1   4 , Lothar Burghaus  5
Affiliations
Review

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

[Article in German]
Christian Schneider et al. Fortschr Neurol Psychiatr. 2017 May.

Abstract
in English, German

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 Erkrankung, deren Diagnose in der Frühphase eine klinische Herausforderung darstellt. Bei Auftreten der Trias orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie sollte frühzeitig der Verdacht auf ein Neuroakanthozytose-Syndrom gestellt werden. Nach Ausschluss von Differenzialdiagnosen wird die Diagnose durch Nachweis einer Chorein-Defizienz oder molekulargenetisch (VPS13A-Mutation) gesichert.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

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