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Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
  1. Alexander M Rossor1,
  2. Aisling S Carr1,
  3. Helen Devine1,
  4. Hoskote Chandrashekar2,
  5. Ana Lara Pelayo-Negro1,
  6. Davide Pareyson3,
  7. Michael E Shy4,
  8. Steven S Scherer5,
  9. Mary M Reilly1
  1. 1MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
  2. 2Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UK
  3. 3Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy
  4. 4Department of Neurology, University of Iowa, Lowa City, USA
  5. 5Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  1. Correspondence to Professor Mary M Reilly, MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK; m.reilly{at}


Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy, for example, cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain-Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.

  • neuropathy
  • neurogenetics

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  • Contributors AMR performed a literature search, analysed the literature, wrote the first draft including tables and figures. ASC, ALP-N and HD performed additional literature searches and drafted manuscripts. HC collected MRI images and drafted the legend for figure 2. DP, SSS and MES revised the manuscript. SSS performed an additional literature search to identify additional diseases. MMR came up with the theme for the review and revised the manuscruipt.

  • Funding The INC (U54NS065712) is a part of the NCATS Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR), NCATS, funded through a collaboration between NCATS and the NINDS. This research was also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. AMR is funded by a Wellcome Trust Postdoctoral Fellowship for Clinicians (110043/Z/15/Z). MMR is grateful to the Medical Research Council (MRC), MRC Centre grant (G0601943).

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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