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Schneider, Christian; Danek, Adrian; Hostmann, Arwed; Fink, Gereon R.; Burghaus, Lothar (2017): Frühdiagnose der Chorea-Akanthozytose: orofaziale Dyskinesien, epileptische Anfälle und HyperCKämie. In: Fortschritte der Neurologie, Psychiatrie, Vol. 85, No. 5: pp. 270-273
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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).