Publications

Authors:

Cavallaro, Tiziana; Tagliapietra, Matteo; Fabrizi, Gian Maria; Bai, Yunhong; Shy, Michael E; Vallat, Jean-Michel

Title:

Hereditary neuropathies, a pathological perspective

Year:

2021

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

Journal of the peripheral nervous system

ISSN of journal:

1085-9489

N° Volume:

26

Number or Folder:

S2

Page numbers:

S42-S60

Keyword:

Charcot-Marie-Tooth disease; Hereditary amyloid neuropathy; Inherited complex neuropathies; Nerve biopsy; Skin biopsy

Short description of contents:

Hereditary neuropathies may result from mutations in genes expressed by Schwann cells or neurons that affect selectively the peripheral nervous system, 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 peripheral nervous system 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. This article is protected by copyright. All rights reserved.

Web page:

https://doi.org/10.1111/jns.12467

Product ID:

122344

Handle IRIS:

11562/1048660

Last Modified:

November 15, 2022

Bibliographic citation:

Cavallaro, Tiziana; Tagliapietra, Matteo; Fabrizi, Gian Maria; Bai, Yunhong; Shy, Michael E; Vallat, Jean-Michel, Hereditary neuropathies, a pathological perspective «Journal of the peripheral nervous system» , vol. 26 , n. S2 , 2021 , pp. S42-S60

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