Genetics in hereditary spastic paraplegias: Essential but not enough - Sorbonne Université Access content directly
Journal Articles Current Opinion in Neurobiology Year : 2022

Genetics in hereditary spastic paraplegias: Essential but not enough

Abstract

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.
Fichier principal
Vignette du fichier
1-s2.0-S0959438821000751-am.pdf (919.22 Ko) Télécharger le fichier
Origin Files produced by the author(s)

Dates and versions

hal-04589252 , version 1 (27-05-2024)

Identifiers

Cite

Frédéric Darios, Giulia Coarelli, Alexandra Durr. Genetics in hereditary spastic paraplegias: Essential but not enough. Current Opinion in Neurobiology, 2022, 72, pp.8-14. ⟨10.1016/j.conb.2021.07.005⟩. ⟨hal-04589252⟩
0 View
0 Download

Altmetric

Share

Gmail Mastodon Facebook X LinkedIn More