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一种新型 ATP13A2 基因突变导致纯遗传性痉挛性截瘫。

A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia.

机构信息

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China.

Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, China.

出版信息

Parkinsonism Relat Disord. 2021 May;86:58-60. doi: 10.1016/j.parkreldis.2021.03.020. Epub 2021 Mar 30.

DOI:10.1016/j.parkreldis.2021.03.020
PMID:33862550
Abstract

SPG78 is a subtype of hereditary spastic paraplegia(HSP) caused by ATP13A2 gene mutations. SPG78 was reported as complicated HSP in several cases, but was never associated with pure HSP. Here we report the first Chinese patient carrying a novel homozygous nonsense mutation in ATP13A2 presenting with pure HSP.

摘要

SPG78 是由 ATP13A2 基因突变引起的遗传性痉挛性截瘫 (HSP) 的一种亚型。有几例报道称 SPG78 为复杂 HSP，但从未与单纯 HSP 相关。我们在此报告首例携带 ATP13A2 新型纯合无义突变的中国纯 HSP 患者。

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