中国神经再生研究(英文版) ›› 2024, Vol. 19 ›› Issue (8): 1653-1654.doi: 10.4103/1673-5374.389634

• 观点:周围神经损伤修复保护与再生 • 上一篇    下一篇

针对肌肉治疗Charcot-Marie-Tooth

  

  • 出版日期:2024-08-15 发布日期:2024-01-03

Targeting muscle to treat Charcot-Marie-Tooth disease

David Villarroel-Campos, James N. Sleigh*#br#   

  1. Department of Neuromuscular Diseases and UCL Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK (Villarroel-Campos D, Sleigh JN)
    UK Dementia Research Institute, University College London, London, UK (Villarroel-Campos D, Sleigh JN)
  • Online:2024-08-15 Published:2024-01-03
  • Contact: James N. Sleigh, DPhil, j.sleigh@ucl.ac.uk.
  • Supported by:
    This work was supported by the funding from the Medical Research Council (MR/S006990/1), the Wellcome Trust (103191/A/13/Z), the Rosetrees Trust (M806) and the UCL Neurogenetic Therapies Programme funded by The Sigrid Rausing Trust.

摘要: https://orcid.org/0000-0002-3782-9045 (James N. Sleigh)
https://orcid.org/0000-0003-4250-7216 (David Villarroel-Campos)

Abstract: 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.