The evolving spectrum of complex inherited neuropathies.

Autor: Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery.; Department of Neurology, Guys and St Thomas' Hospitals NHS Foundation Trust, UK., Haddad S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery.
Jazyk: angličtina
Zdroj: Current opinion in neurology [Curr Opin Neurol] 2024 Oct 01; Vol. 37 (5), pp. 427-444. Date of Electronic Publication: 2024 Jul 31.
DOI: 10.1097/WCO.0000000000001307
Abstrakt: Purpose of Review: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes.
Recent Findings: This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic.
Summary: In this review we provide a practical approach to investigating and diagnosing patients with peripheral neuropathy as part of a complex syndrome and provide an updated table of the genes associated with this group of diseases.
(Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze: MEDLINE
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