Asymmetrical late onset distal hereditary motor neuropathy in a Chinese family associated with HSPB1

• 作 者: YingshuangZhang[1]XiaoxuanLiu[1]ApingSun[1]ShujuanSong[2]DongshengFan[1]
• 机 构: Department of Neurology, Peking University third hospital, China
• 出 处: 首届中国遗传与疾病论坛——常见与罕见神经遗传病规范化诊治学术交流会
• 发表日期: 2013年期

　　Objective: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders characterized by progressive, pure motor axonal neuropathy.Mutations in the small heat-shock protein HSPB1 are responsible for one form of dHMN.Patients: Here we report a Chinese family with strikingly asymmetrical late onset dominant dHMN.3 patients spanning 2 generations (proband 53-year-old man, his brother and his mother) developed asymmetrical distal limb weakness, muscular atrophy after the fourth decade.Results and Conclusion: Gene testing had excluded mutation in MFN2, GJB1 and HSPB8.2 affected family members had a heterozygous missense mutation cDNA 379C→T(127Arg→Trp)in HSPB1 gene.