Universität zu Köln

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:	Creators Email ORCID ORCID Put Code Schneider, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Danek, Adrian UNSPECIFIED orcid.org/0000-0001-8857-5383 UNSPECIFIED Hostmann, Arwed UNSPECIFIED UNSPECIFIED UNSPECIFIED Fink, Gereon R. UNSPECIFIED orcid.org/0000-0002-8230-1856 UNSPECIFIED Burghaus, Lothar UNSPECIFIED UNSPECIFIED UNSPECIFIED
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:	Keywords Language PRESENTING FEATURE; TONGUE PROTRUSION; NEUROACANTHOCYTOSIS; DYSTONIA; TETRABENAZINE; PROTEIN Multiple languages Clinical Neurology; Psychiatry Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23317