Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

• 作者: Kyproula Christodoulou Paschalis Nicolaou
• 来源期刊: 世界神经病学杂志
• 学科: 医学
• 关键词: CHARCOT-MARIE-TOOTH disease CHARCOT-MARIE-TOOTH NEUROPATHY GENETICS MOLECULAR DIAGNOSIS
• 年，卷（期）: sjsjbxzz_2013,（3）
• 页码范围: 42-55
• 页数: 14页
• 分类号: R

摘要

Charcot-Marie-Tooth(CMT)disease or hereditary motor and sensory neuropathy is the most common inherited neuromuscular disorder affecting at least 1 in 2500.CMT disease is pathologically and genetically heterogeneous and is characterized by a variable age of onset,slowly progressive weakness and muscle atrophy,starting in the lower limbs and subsequently affecting the upper extremities.Symptoms are usually slowly progressive,especially for the classic and late-onset phenotypes,but can be rather severe in early-onset forms.CMT is grouped into demyelinating,axonal and intermediate forms,based on electrophysiological and pathological findings.The demyelinating types are characterized by severely reduced motor nerve conduction velocities(MNCVs)and mainly by myelin abnormalities.The axonal types are characterized by normal or slightly reduced MNCVs and mainly axonal abnormalities.The intermediate types are characterized by MNCVs between 25 m/s and 45 m/s and they have features of both demyelination and axonopathy.Inheritance can be autosomal dominant,X-linked,or autosomal recessive.Mutations in more than 30 genes have been associated with the different forms of CMT,leading to major advancements in molecular diagnostics of the disease,as well as in the understanding of pathogenetic mechanisms.This editorial aims to provide an account that is practicable and efficient on the current molecular diagnostic procedures for CMT,in correlation with the clinical,pathological and electrophysiological findings.The most frequent causative mutations of CMT will also be outlined.