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

被引：1

作者：

Schneider, Christian ^{[1
]}

Danek, Adrian ^{[2
]}

Hostmann, Arwed ^{[3
]}

Fink, Gereon R. ^{[1
,4
]}

Burghaus, Lothar ^{[5
]}

机构：

[1] Uniklin Koln, Klin & Poliklin Neurol, Kerpener Str 62, D-50924 Cologne, Germany

[2] Ludwig Maximilians Univ Munchen, Neurol Klin & Poliklin, Munich, Germany

[3] Uniklin Koln, Inst Klin Chem, Cologne, Germany

[4] Forschungszentrum Julich, Inst Neurowissensch & Med INM 3, D-52425 Julich, Germany

[5] Heilig Geist Krankenhaus, Klin Neurol, Cologne, Germany

来源：

FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE | 2017年 / 85卷 / 05期

关键词：

neuroacanthocytosis syndromes; chorea-acanthocytosis; orofacial dyskinesia; epileptic seizure; hyperCKemia; PRESENTING FEATURE; TONGUE PROTRUSION; NEUROACANTHOCYTOSIS; DYSTONIA; TETRABENAZINE; PROTEIN;

D O I：

10.1055/s-0042-123042

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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).

引用

页码：270 / 273

页数：4

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