Peripheral neuropathy in complex inherited diseases: An approach to diagnosis

Alexander M. Rossor, Aisling S. Carr, Helen Devine, Hoskote Chandrashekar, Ana Lara Pelayo-Negro, Davide Pareyson, Michael E. Shy, Steven S. Scherer, Mary M. Reilly

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)846-863
Number of pages18
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume88
Issue number10
DOIs
Publication statusPublished - Oct 1 2017

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology
  • Psychiatry and Mental health

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