Schneider, Christian, Danek, Adrian ORCID: 0000-0001-8857-5383, Hostmann, Arwed, Fink, Gereon R. ORCID: 0000-0002-8230-1856 and Burghaus, Lothar (2017). Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia. Forschritte Neurol. Psychiatr., 85 (5). S. 270 - 274. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3522

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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
Creators:
CreatorsEmailORCIDORCID Put Code
Schneider, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Danek, AdrianUNSPECIFIEDorcid.org/0000-0001-8857-5383UNSPECIFIED
Hostmann, ArwedUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fink, Gereon R.UNSPECIFIEDorcid.org/0000-0002-8230-1856UNSPECIFIED
Burghaus, LotharUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-233179
DOI: 10.1055/s-0042-123042
Journal or Publication Title: Forschritte Neurol. Psychiatr.
Volume: 85
Number: 5
Page Range: S. 270 - 274
Date: 2017
Publisher: GEORG THIEME VERLAG KG
Place of Publication: STUTTGART
ISSN: 1439-3522
Language: German
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
PRESENTING FEATURE; TONGUE PROTRUSION; NEUROACANTHOCYTOSIS; DYSTONIA; TETRABENAZINE; PROTEINMultiple languages
Clinical Neurology; PsychiatryMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/23317

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