Charcot-Marie-Tooth Disease and related hereditary neuropathies: From gene function to associated phenotypes

D. Pareyson, P. Saveri, G. Piscosquito

Research output: Contribution to journalArticlepeer-review


Charcot-Marie-Tooth disease (CMT) and related neuropathies are a genetically highly heterogeneous group of neurodegenerative disorders. CMT affects both the sensory and motor nerves, distal Hereditary Motor Neuropathies (dHMN) are phenotypically similar disorders involving only motor nerves, while Hereditary Sensory and Autonomic Neuropathies (HSAN) are rare distinct disorders affecting sensory and sometimes autonomic nerves. Almost 70 genes have been identified as responsible for these disorders. It is astonishing to learn how diverse are the cellular sublocalisation and the functional roles of the encoded proteins of CMT-associated genes which all lead to similar disorders of the peripheral nervous system. Myelin formation and maintenance, mitochondrial dynamics, cytoskeleton organization, axonal transport, and vesicular trafficking are the most frequently involved pathways. However, dysfunction of several activities from the nucleus to the neuromuscular junction forms the basis for these hereditary neuropathies, making it challenging predicting the functions of newly identified mutated genes. In this review we will discuss the function and related phenotypes of all the genes thus far associated with CMT, dHMN, and HSAN.

Original languageEnglish
Pages (from-to)1009-1033
Number of pages25
JournalCurrent Molecular Medicine
Issue number8
Publication statusPublished - Mar 1 2014


  • Charcot-Marie-Tooth disease (CMT)
  • Distal Hereditary Motor Neuropathy (dHMN)
  • Hereditary Sensory (Autonomic) Neuropathy (HSAN)
  • Hereditary Sensory Motor Neuropathy (HSMN)

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Molecular Medicine


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