Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

DNA integrity and gene expression axonal transport ion channels mitochondria and metabolism neurogenetic disease protein quality control

Journal

Trends in neurosciences
ISSN: 1878-108X
Titre abrégé: Trends Neurosci
Pays: England
ID NLM: 7808616

Informations de publication

Date de publication:
14 Feb 2024
Historique:
received: 18 08 2023
revised: 23 01 2024
accepted: 24 01 2024
medline: 16 2 2024
pubmed: 16 2 2024
entrez: 15 2 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.tins.2024.01.004 PMID: 38360512
pubmed: 38360512
pii: S0166-2236(24)00016-X
doi: 10.1016/j.tins.2024.01.004
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of interests J.B. has received ad hoc consultancy compensation for activities with Sanofi, CSL Behring, Alnylam, Roche, Amylyx and ARGENX. J.B. and V.T. submitted patents on behalf of the University of Antwerp. The other authors declare no conflict of interest.

Auteurs

Liedewei Van de Vondel (L)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.

Jonathan De Winter (J)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.

Vincent Timmerman (V)

Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.

Jonathan Baets (J)

Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium. Electronic address: Jonathan.baets@uantwerpen.be.

Classifications MeSH