J Neurol Neurosurg Psychiatry 80:1304-1314 doi:10.1136/jnnp.2008.158295
  • Review

Diagnosis and new treatments in genetic neuropathies

  1. M M Reilly1,
  2. M E Shy2
  1. 1
    MRC Centre for Neuromuscular Disease, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery and Institute of Neurology, London, UK
  2. 2
    Departments of Neurology and Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA
  1. Correspondence to Dr M M Reilly, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK; m.reilly{at}
  • Received 16 January 2009
  • Accepted 14 March 2009


The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot–Marie–Tooth disease (CMT), the hereditary sensory and autonomic neuropathies and the distal hereditary motor neuropathies. More than 30 causative genes have been described, making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has revolutionised our understanding of the peripheral nervous system and allowed the development of rational approaches to therapy. The first therapeutic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies.


  • Funding MMR acknowledges the Medical Research Council and the Muscular Dystrophy Campaign for funding support. The work of MMR was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme. MES acknowledges support from NINDS, the Muscular Dystrophy Association and the Charcot–Marie–Tooth Association.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and Peer review Commissioned; externally peer reviewed.

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