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。
The c.91C>T mutation in DNAJB2 gene associated distal hereditary motor neuropathy and early-onset Parkinson′s disease: a family report
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.
Hereditary sensory and motor neuropathyCharcot-Marie-Tooth diseaseMuscular atrophy, spinalParkinson diseaseDNAJB2 gene
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