Journal article
Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
Journal of neurology, neurosurgery and psychiatry, Vol.88(10), pp.846-863
10/2017
DOI: 10.1136/jnnp-2016-313960
PMID: 28794150
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.
Details
- Title: Subtitle
- Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
- Creators
- Alexander M Rossor - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKAisling S Carr - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKHelen Devine - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKHoskote Chandrashekar - Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UKAna Lara Pelayo-Negro - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UKDavide Pareyson - Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, ItalyMichael E Shy - Department of Neurology, University of Iowa, Iowa City, USASteven S Scherer - Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USAMary M Reilly - MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, neurosurgery and psychiatry, Vol.88(10), pp.846-863
- DOI
- 10.1136/jnnp-2016-313960
- PMID
- 28794150
- NLM abbreviation
- J Neurol Neurosurg Psychiatry
- ISSN
- 0022-3050
- eISSN
- 1468-330X
- Grant note
- DOI: 10.13039/100004440, name: Wellcome Trust; DOI: 10.13039/501100000265, name: Medical Research Council; DOI: 10.13039/100000065, name: National Institute of Neurological Disorders and Stroke
- Language
- English
- Date published
- 10/2017
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984070897402771
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