Dejerine-Sottas病研究进展

Dejerine-Sottas病(Dejerine-Sottas disease,DSD)是指一种发病早的严重脱髓鞘神经病变,曾被称归类为CMT3型,但最新分类指出DSD其实是CMT1疾病谱中表型严重、伴有神经传导速度显著减慢的一类.DSD系一组遗传异质性周围神经病,遗传方式可为常染色体显性和常染色体隐性遗传,目前已经确定最常见的分子遗传学病因是PMP22、MPZ、EGR2的单等位基因突变.该病发病早,临床症状重,病情进展快,运动感觉功能均受损,神经传导速度缓慢,神经活检显示严重的脱髓鞘改变、髓鞘形成低下、多数患者髓鞘再生呈洋葱头样肥大.DSD预后不良,目前尚无明确有效的治疗策略.

Research progress of the Dejerine-Sottas disease

Dejerine-Sottas diseases (DSD)refers to a early onset severe demyelinating neuropathy,which is classified as CMT3 type,but the latest classification retains CMT3,and points out that the DSD is CMT1 disease with severe phenotype and slow nerve conduction velocities.DSD is a set of genetic heterogeneity peripheral neuropathy,genetic approach to autosomal dominant and autosomal recessive inheritance,When identified,the most frequent molecular genetic causes are monoallelic mutations in MPZ (myelin protein zero),PMP22 or EGR2 (early growth response 2).DSD is strictly defined as a severe demyelinating neuropathy,with early-onset,quick progress,severely slowed NCVs,and damaged sensorimotor functions.Is unsatisfatory,there is no clear effective treatment strategies.