Publication
Title
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
Author
Abstract
International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (IPNs), spastic paraplegias, and cerebellar ataxias. These clinically defined borders are being challenged by the identification of mutations in genes displaying wide phenotypic spectra and by shared pathomechanistic themes, which are valuable indications for therapy development. We highlight common cellular alterations that underlie this genetic landscape, including alteration of cytoskeleton, axonal transport, mitochondrial function, and DNA repair response. Finally, we discuss venues for future research using the long axonopathies of the PNS as a model to explore other neurogenetic disorders.
Language
English
Source (journal)
Trends in neurosciences. - Cambridge
Publication
Cambridge : 2024
ISSN
0166-2236
DOI
10.1016/J.TINS.2024.01.004
Volume/pages
47 :3 (2024) , p. 227-238
ISI
001207564300001
Pubmed ID
38360512
Full text (Publisher's DOI)
Full text (open access)
The author-created version that incorporates referee comments and is the accepted for publication version Available from 12.08.2024
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Project info
Neuro-spectrinopathies: approaching the phenotypical heterogeneity issue
Neuromuscular disorders: from the omics-age towards novel therapies.
Solving the unsolved Rare Diseases (Solve-Rd).
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 21.03.2024
Last edited 06.07.2024
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