Journal article
Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond
Muscle & nerve, Vol.67(4), pp.259-271
04/2023
DOI: 10.1002/mus.27752
PMID: 36448457
Abstract
Small-fiber neuropathy (SFN) is a disorder that exclusively affects the small nerve fibers, sparing the large nerve fibers. Thinly myelinated A delta-fibers and unmyelinated C-fibers are damaged, leading to development of neuropathic pain, thermal dysfunction, sensory symptoms, and autonomic disturbances. Although many SFNs are secondary and due to immunological causes or metabolic disturbances, the etiology is unknown in up to half of the patients. Over the years, this proportion of "idiopathic SFN" has decreased, as familial and genetic causes have been discovered, thus shifting a proportion of once "idiopathic" cases to the genetic category. After the discovery of SCN9A-gene variants in 2012, SCN10A and SCN11A variants have been found to be pathogenic in SFN. With improved accessibility of SFN diagnostic tools and genetic tests, many non-SCN variants and genetically inherited systemic diseases involving the small nerve fibers have also been described, but only scattered throughout the literature. There are 80 SCN variants described as causing SFN, 8 genes causing hereditary sensory autonomic neuropathies (HSAN) described with pure SFN, and at least 7 genes involved in genetically inherited systemic diseases associated with SFN. This systematic review aims to consolidate and provide an updated overview on the genetic variants of SFN to date---SCN genes and beyond. Awareness of these genetic causes of SFN is imperative for providing treatment directions, prognostication, and management of expectations for patients and their health-care providers.
Details
- Title: Subtitle
- Expanding the genetic causes of small-fiber neuropathy: SCN genes and beyond
- Creators
- Amanda C. Y. Chan - National University HospitalShivaram Kumar - National University of SingaporeGrace Tan - National University of SingaporeHiu Yi Wong - University of Hong KongJonathan J. Y. Ong - National University HospitalBharatendu Chandra - National University of SingaporeHua Huang - National University of SingaporeVijay Kumar Sharma - National University of SingaporePoh San Lai - National University of Singapore
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.67(4), pp.259-271
- Publisher
- Wiley
- DOI
- 10.1002/mus.27752
- PMID
- 36448457
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 13
- Grant note
- MOH-000324-00 / National Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC)
- Language
- English
- Electronic publication date
- 11/30/2022
- Date published
- 04/2023
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984353930302771
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