| 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 |
Full text not available from 'Open Access LMU'.
Abstract
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).
| Item Type: | Journal article |
|---|---|
| Faculties: | Medicine |
| Subjects: | 600 Technology > 610 Medicine and health |
| ISSN: | 0720-4299 |
| Language: | German |
| ID Code: | 51878 |
| Deposited On: | 14. Jun 2018 09:48 |
| Last Modified: | 04. Nov 2020 13:30 |
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