[舞蹈病-棘红细胞增多症的早期诊断：口面部运动障碍、癫痫发作和高肌酸激酶血症]
[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].
作者信息
Schneider Christian, Danek Adrian, Hostmann Arwed, Fink Gereon R, Burghaus Lothar
机构信息
Klinik und Poliklinik für Neurologie, Uniklinik Köln.
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität München.
出版信息
Fortschr Neurol Psychiatr. 2017 May;85(5):270-273. doi: 10.1055/s-0042-123042. Epub 2017 May 23.
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).
舞蹈病-棘红细胞增多症是一种罕见的神经退行性疾病。早期诊断往往具有挑战性。口面部运动障碍、癫痫发作和高肌酸激酶血症三联征应提醒神经科医生注意神经棘红细胞增多症综合征。可通过检测 chorein 缺乏或通过分子遗传学（VPS13A 突变）来确诊。
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