PT  - JOURNAL ARTICLE
AU  - Alexander M Rossor
AU  - Aisling S Carr
AU  - Helen Devine
AU  - Hoskote Chandrashekar
AU  - Ana Lara Pelayo-Negro
AU  - Davide Pareyson
AU  - Michael E Shy
AU  - Steven S Scherer
AU  - Mary M Reilly
TI  - Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
AID  - 10.1136/jnnp-2016-313960
DP  - 2017 Aug 09
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - jnnp-2016-313960
4099  - http://jnnp.bmj.com/content/early/2017/08/08/jnnp-2016-313960.short
4100  - http://jnnp.bmj.com/content/early/2017/08/08/jnnp-2016-313960.full
AB  - 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.