运动障碍病例讨论：两个中国家系中 ATP1A3 新型变异所致不典型病例
Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3.
机构信息
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, 100730, China.
出版信息
Parkinsonism Relat Disord. 2020 Sep;78:189-191. doi: 10.1016/j.parkreldis.2020.05.030. Epub 2020 Jun 29.
Abstract
ATP1A3-related dystonia is a disorder with high heterogeneous spectrum of clinical manifestations caused by mutations in ATP1A3 gene. Here, 2 atypical cases carring 2 de-novo ATP1A3 variants with RDP-CAPOS overlapping phenotype or continuous hemi-dystonia are described.
摘要
ATP1A3 相关性肌张力障碍是一种由 ATP1A3 基因突变引起的临床表现高度异质性的疾病。本文报道了 2 例具有 RDP-CAPOS 重叠表型或连续性偏侧肌张力障碍的 ATP1A3 变异的散发性病例。
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