Journal article
Hereditary neuropathies: A pathological perspective
Journal of the peripheral nervous system, Vol.26(S2), pp.S42-S60
11/2021
DOI: 10.1111/jns.12467
Abstract
Hereditary neuropathies may result from mutations in genes expressed by Schwann cells or neurons that affect selectively the peripheral nervous system (PNS) or may represent a minor or major component of complex inherited diseases that involve also the central nervous system and/or other organs and tissues. The chapter is constantly expanding and reworking, thanks to advances of molecular genetics; next‐generation sequencing is identifying a plethora of new genes and is revolutionizing the diagnostic approach. In the past, diagnostic sural nerve biopsies paved the way to the discovery and elucidation of major genes and molecular pathways associated to most frequent hereditary motor–sensory neuropathies. Nowadays, a sural nerve biopsy may prove useful in selected cases for the differential diagnosis of an acquired neuropathy when clinical examination, nerve conduction studies, and molecular tests are not sufficiently informative. Skin biopsy has emerged as a minimally invasive window on the PNS, which may provide biomarkers of progression and clues to the physiopathology and molecular pathology of inherited neuropathies. The aim of our review is to illustrate the pathological features of more frequent and paradigmatic hereditary neuropathies and to highlight their correlations with the roles of the involved genes and functional consequences of related molecular defects.
Details
- Title: Subtitle
- Hereditary neuropathies: A pathological perspective
- Creators
- Tiziana Cavallaro - University of VeronaMatteo Tagliapietra - University of VeronaGian Maria Fabrizi - University of VeronaYunhong Bai - University of Iowa, NeurologyMichael E Shy - University of Iowa, NeurologyJean‐Michel Vallat - CHU Dupuytren
- Resource Type
- Journal article
- Publication Details
- Journal of the peripheral nervous system, Vol.26(S2), pp.S42-S60
- Publisher
- Wiley Periodicals, Inc
- DOI
- 10.1111/jns.12467
- ISSN
- 1085-9489
- eISSN
- 1529-8027
- Number of pages
- 19
- Language
- English
- Date published
- 11/2021
- Academic Unit
- Iowa Neuroscience Institute; Molecular Physiology and Biophysics; Neurology; Stead Family Department of Pediatrics
- Record Identifier
- 9984196453002771
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