Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses

Yusuf Rajabally*, David Adams, Philippe Latour, Shahram Attarian

*Corresponding author for this work

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1051-1060
Number of pages10
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume87
Issue number10
Early online date23 Mar 2016
DOIs
Publication statusPublished - 23 Mar 2016

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Diagnostic Errors
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Familial Amyloid Neuropathies
Charcot-Marie-Tooth Disease
Immunomodulation
Electrophysiology
Genetic Testing
Immunotherapy
Publications
Molecular Biology
Phenotype
Predisposition
Therapeutics

Bibliographical note

Published by the BMJ Publishing Group Limited.

Cite this

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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.",
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Hereditary and inflammatory neuropathies : a review of reported associations, mimics and misdiagnoses. / Rajabally, Yusuf; Adams, David; Latour, Philippe; Attarian, Shahram.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 87, No. 10, 23.03.2016, p. 1051-1060.

Research output: Contribution to journalArticle

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