Niu Jingwen, Dai Yi, Liu Mingsheng, Li Yi, Ding Qingyun, Guan Yuzhou, Cui Liying, Jin Liri
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Front Neurol. 2020 Jan 15;10:1406. doi: 10.3389/fneur.2019.01406. eCollection 2019.
Patients with mutations manifested as pure central nervous system (CNS) involvement without peripheral neuropathy have not been adequately reported. To expand the disease spectrum of mutations, we report a case series. Eleven patients from 9 families with mutations were reviewed. The clinical manifestations, electrophysiological studies, and gene tests were summarized. Nine patients had peripheral neuropathy, one patient had both peripheral neuropathy and mild cognitive impairment, and one patient had recurrent episodic limbs weakness and aphasia with normal electrophysiological study, indicating CNS involvement only. mutations form a clinical spectrum, including most patients with peripheral nerve involvement, those with both peripheral neuropathy and CNS involvement, and patients with CNS involvement only.
有突变表现为单纯中枢神经系统（CNS）受累而无周围神经病变的患者尚未得到充分报道。为了扩大该突变的疾病谱，我们报告了一个病例系列。回顾了来自9个家庭的11例有该突变的患者。总结了临床表现、电生理研究和基因检测情况。9例患者有周围神经病变，1例患者既有周围神经病变又有轻度认知障碍，1例患者有反复发作的肢体无力和失语，电生理研究正常，提示仅中枢神经系统受累。该突变形成一个临床谱，包括大多数有周围神经受累的患者、既有周围神经病变又有中枢神经系统受累的患者以及仅中枢神经系统受累的患者。
