The c.91C>T mutation in DNAJB2 gene associated distal hereditary motor neuropathy and early-onset Parkinson′s disease: a family report
苏羽 1刘玲春 1杨瑞晗 1张明智 1刘达 1孟强 1郑晴
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作者信息
1. 昆明理工大学附属医院 云南省第一人民医院神经内科，昆明 650032
折叠
摘要
报道1个携带DNAJB2基因c.91C>T（p.His31Tyr）纯合变异的远端遗传性运动神经病（dHMN）合并早发型帕金森病的家系。先证者病程早期表现为远端肢体无力、萎缩，10余年后出现了帕金森症状，神经电生理检查提示存在运动及感觉神经轴索受累的表现。该突变位点尚未被报道，排除其他可引起早发型帕金森病的突变，考虑为dHMN的新发致病突变。 A family carrying a homozygous variant of DNAJB2 gene C.91C>T (p.His31Tyr) with distal hereditary motor neuropathy (dHMN) associated with early-onset Parkinson′s disease was reported. The patient presented with distal limb weakness and atrophy at the early stage of the disease, and developed Parkinson′s symptoms more than 10 years later. Neuroelectrophysiological examination suggested motor and sensory axonal involvement. This mutation site had not been reported and was considered to be a neogenic mutagenicity of dHMN, excluding other mutations that can cause early-onset Parkinson′s disease.
Abstract
A family carrying a homozygous variant of DNAJB2 gene C.91C>T (p.His31Tyr) with distal hereditary motor neuropathy (dHMN) associated with early-onset Parkinson′s disease was reported. The patient presented with distal limb weakness and atrophy at the early stage of the disease, and developed Parkinson′s symptoms more than 10 years later. Neuroelectrophysiological examination suggested motor and sensory axonal involvement. This mutation site had not been reported and was considered to be a neogenic mutagenicity of dHMN, excluding other mutations that can cause early-onset Parkinson′s disease.
关键词
遗传性运动感觉神经病/夏科-马里-图斯病/肌萎缩,脊髓性/帕金森病/DNAJB2基因
Key words
Hereditary sensory and motor neuropathy/Charcot-Marie-Tooth disease/Muscular atrophy, spinal/Parkinson disease/DNAJB2 gene
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