Hereditary neuropathies: A pathological perspective.
Charcot-Marie-Tooth disease
hereditary amyloid neuropathy
inherited complex neuropathies
nerve biopsy
skin biopsy
Journal
Journal of the peripheral nervous system : JPNS
ISSN: 1529-8027
Titre abrégé: J Peripher Nerv Syst
Pays: United States
ID NLM: 9704532
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
revised:
30
03
2021
received:
23
02
2021
accepted:
24
08
2021
pubmed:
10
9
2021
medline:
28
4
2022
entrez:
9
9
2021
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
S42-S60Informations de copyright
© 2021 Peripheral Nerve Society.
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