The c.91C>T mutation in DNAJB2 gene associated distal hereditary motor neuropathy and early-onset Parkinson′s disease: a family report
10.3760/cma.j.cn113694-20230908-00129
- VernacularTitle:DNAJB2基因c.91C>T突变相关的远端遗传性运动神经病和早发型帕金森病一家系
- Author:
Yu SU
1
;
Lingchun LIU
;
Ruihan YANG
;
Mingzhi ZHANG
;
Da LIU
;
Qiang MENG
Author Information
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
- Keywords:
Hereditary sensory and motor neuropathy;
Charcot-Marie-Tooth disease;
Muscular atrophy, spinal;
Parkinson disease;
DNAJB2 gene
- From:
Chinese Journal of Neurology
2024;57(3):283-289
- CountryChina
- Language:Chinese
-
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.
