Benninger Felix, Afawi Zaid, Korczyn Amos D, Oliver Karen L, Pendziwiat Manuela, Nakamura Masayuki, Sano Akira, Helbig Ingo, Berkovic Samuel F, Blatt Ilan
Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27.
The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene.
Genetic test results, clinical description, magnetic resonance imaging (MRI), and electroencephalography (EEG), as well as laboratory results are summarized.
ChAc is a rare genetic disorder characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric symptoms, and acanthocytes on peripheral blood smear. This unique cohort of nine patients is characterized by seizures as a first and prominent symptom. In our patients, other features of ChAc appeared later, including tics, other movement disorders, dysarthria, and mild to moderate cognitive decline.
Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.
本研究旨在描述三个患有舞蹈病-棘红细胞增多症（ChAc）的家族中9名患者的临床特征，这些患者共享VPS13A基因中相同的罕见c.2343del突变。
总结基因检测结果、临床描述、磁共振成像（MRI）、脑电图（EEG）以及实验室检查结果。
ChAc是一种罕见的遗传性疾病，其特征为运动亢进、癫痫发作、认知衰退、神经精神症状以及外周血涂片上出现棘红细胞。这9名患者组成的独特队列以癫痫发作作为首发且突出的症状。在我们的患者中，ChAc的其他特征随后出现，包括抽搐、其他运动障碍、构音障碍以及轻度至中度认知衰退。
携带上述罕见突变的舞蹈病-棘红细胞增多症患者可能会出现局灶性、难治性癫痫发作。
