Genetics in hereditary spastic paraplegias: Essential but not enough.

Humans Mutation / genetics Phenotype Spastic Paraplegia, Hereditary / genetics

Journal

Current opinion in neurobiology
ISSN: 1873-6882
Titre abrégé: Curr Opin Neurobiol
Pays: England
ID NLM: 9111376

Informations de publication

Date de publication:
02 2022
Historique:
received: 12 05 2021
revised: 04 06 2021
accepted: 14 07 2021
pubmed: 18 8 2021
medline: 2 4 2022
entrez: 17 8 2021
Statut: ppublish

Résumé

Hereditary spastic paraplegias consist of a group of rare neurodegenerative diseases characterized by lower limb spasticity. These inherited Mendelian disorders show high genetic variability associated with wide clinical diversity. Pathophysiological investigations have suggested that mutations in genes affecting the same cellular pathway generally lead to similar clinical symptoms, highlighting the importance of genetic mutation in these diseases. However, phenotype-genotype correlations have failed to explain the observed large inter-individual variability linked to mutations in a single gene, suggesting that genetics alone is not sufficient to explain symptom diversity. The identification of biomarkers, such as neurofilament light chain, could fill the gap and predict disease evolution.

Identifiants

DOI: 10.1016/j.conb.2021.07.005 PMID: 34403957
pubmed: 34403957
pii: S0959-4388(21)00075-1
doi: 10.1016/j.conb.2021.07.005
pii:
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

8-14

Informations de copyright

Copyright © 2021 Elsevier Ltd. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of interest statement Nothing declared.

Auteurs

Frédéric Darios (F)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm U1127, CNRS UMR7225, Paris, 75013, France. Electronic address: frederic.darios@icm-institute.org.

Giulia Coarelli (G)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm U1127, CNRS UMR7225, Paris, 75013, France; AP-HP, Hôpital de la Pitié Salpêtrière, Paris, 75013, France.

Alexandra Durr (A)

Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm U1127, CNRS UMR7225, Paris, 75013, France; AP-HP, Hôpital de la Pitié Salpêtrière, Paris, 75013, France. Electronic address: alexandra.durr@icm-institute.org.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetics in hereditary spastic paraplegias:...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genetics in hereditary spastic paraplegias:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genetics in hereditary spastic paraplegias:...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Paraplégie spasmodique héréditaire › Genetics in hereditary spastic paraplegias:...