Targeting muscle to treat Charcot-Marie-Tooth disease
David Villarroel-Campos
James N.Sleigh
Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre,UCL Queen Square Institute of Neurology,University College London,London,UK;UK Dementia Research Institute,University College London,London,UK
摘要：Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb extremities.CMT patients display gait abnormalities,foot deformities,loss of sensation and decreased/absent deep tendon reflexes,with motor symptoms usually being more prominent than sensory.Resulting from＞1500 different mutations across＞100 diverse genes,CMT affects 1 in ≈2500 people and is inherited in an autosomal recessive,autosomal dominant or X-linked fashion.Based on assessment of nerve conduction velocity,CMT is divided into Type 1/demyelinating CMT,in which perturbed Schwann cell homeostasis affects saltatory conduction and reduces nerve conduction velocity,and Type 2/axonal CMT,where motor and sensory axons are lost without affecting nerve conduction velocity.There are also intermediate forms of CMT that share features of demyelinating and axonal neuropathies,including intermediate nerve conduction velocity values.
机标关键词：marietoothtreatcharcotdiseasemuscletargeting
论文发表日期：2024-08-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：2( 1653-1654 )