Neurofilaments et au-delà : biomarqueurs multimodaux et biologie cachée de la SLA
DOI :
https://doi.org/10.18192/osurj.v5i1.7924Résumé
La sclérose latérale amyotrophique (SLA) est une maladie neurodégénérative fatale caractérisée par la perte progressive des motoneurones supérieurs et inférieurs, entraînant le décès par insuffisance respiratoire quelques années après l’apparition des symptômes. L’hétérogénéité clinique et biologique marquée de la SLA a entravé le développement de thérapies efficaces, suscitant un intérêt considérable pour les biomarqueurs susceptibles d’améliorer le diagnostic, le pronostic et l’efficacité des essais cliniques.
Cette revue résume les avancées récentes concernant les biomarqueurs liquides, d’imagerie, génétiques et numériques de la SLA, en mettant particulièrement l’accent sur la chaîne légère des neurofilaments (neurofilament light chain), considérée comme un candidat majeur pour des applications pronostiques et pharmacodynamiques. Elle souligne que les biomarqueurs actuels, bien que prometteurs, demeurent des substituts imparfaits de la biologie sous-jacente de la maladie et révèlent souvent des lacunes fondamentales dans la compréhension de la pathogenèse de la SLA. Elle soutient que, pour exploiter pleinement le potentiel des biomarqueurs, le domaine doit investir davantage dans des recherches mécanistiques et longitudinales reliant la dynamique des biomarqueurs aux voies cellulaires, à la génétique et aux issues cliniques, afin de permettre l’élaboration de stratégies thérapeutiques plus rationnelles et personnalisées.
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