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Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses
  1. Yusuf A Rajabally1,2,
  2. David Adams3,4,
  3. Philippe Latour5,
  4. Shahram Attarian4,6,7
  1. 1School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, UK
  2. 2Regional Neuromuscular Clinic, Queen Elizabeth Hospital, University Hospitals of Birmingham, Birmingham, UK
  3. 3Department of Neurology, National Reference Centre for FAP and other rare peripheral neuropathies (NNERf) APHP, CHU Bicêtre, HUPS, INSERM U1195, Université Paris Sud, Le Kremlin-Bicêtre, France
  4. 4FILNEMUS, Filière nationale des Maladies neuromusculaires, Marseille, France
  5. 5Laboratoire de Neurogénétique Moléculaire, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France
  6. 6Reference Centre for Neuromuscular Diseases and ALS, Centre Hospitalier Universitaire La Timone, Marseille, France
  7. 7Inserm UMR_S 910 Medical Genetics and Functional Genomics, Aix-Marseille University, Marseille, France
  1. Correspondence to Professor Yusuf A Rajabally, School of Life and Health Sciences, Aston Brain Centre, Aston University, Aston Triangle, Birmingham B4 7ET, UK; y.rajabally{at}aston.ac.uk

Abstract

Distinguishing between hereditary and inflammatory neuropathy is usually straightforward on clinical grounds with the help of a family history. There are nevertheless cases where the distinction is less clear. The advent of molecular genetics has in the past several years aided confirmatory diagnosis for an increasing proportion of patients with genetic neuropathy. Various reports have described associations of Charcot-Marie-Tooth disease with a suspected or confirmed inflammatory neuropathy occasionally responding to immunotherapy. Possible predisposition to an inflammatory component was suggested in a subset of patients. Such reports have, however, been relatively few in number, suggesting the rarity of such associations and of such a predisposition if it exists. There have been a number of publications detailing clinical presentations suggestive of inflammatory neuropathy in patients with a known or later proven genetic aetiology, and subsequently felt to be part of the phenotype rather than representing an association. A number of genetically mediated multisystemic diseases with neuropathy have otherwise been reported as mimicking chronic inflammatory demyelinating polyneuropathy (CIDP). The most common example is that of familial amyloid polyneuropathy, of particular concern for the clinician when misdiagnosed as CIDP, in view of the therapeutic implications. We review the literature on reported associations, mimics and misdiagnoses of hereditary and inflammatory neuropathy and attempt to determine a practical approach to the problem in clinical practice using clinical features, electrophysiology, histopathology and targeted early genetic testing. The issue of attempting immunomodulatory therapy is discussed in view of the published literature.

  • NEUROPATHY
  • GENETICS
  • PERIPHERAL NEUROPATHOLOGY
  • NEUROPHYSIOL, CLINICAL

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