French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

Date publication

mai 2025

Journal

Revue neurologique

Auteurs

Membres identifiés du Cancéropôle Est :
Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Mania-Pâris L, Ewenczyk C, Nicolas G, Anheim M, Durr A, Pichon B, Isner-Horobeti ME, Angelini C, Goizet C, Roubertie A, Soudrie B, Davion JB, Marolleau I, Maumy I, Pichon V, Thauvin C, Thomas Q

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40450402

Résumé

Hereditary spastic paraplegia (HSP) describes a group of rare genetic neurological diseases characterized by a common clinical presentation made of progressive motor weakness and spasticity of the lower limbs. The global prevalence is estimated at 3.6 individuals per 100,000 inhabitants.

Mots clés

Diagnosis, Guidelines, Hereditary spastic paraplegia, Management, NGS, Treatment

Référence

Rev Neurol (Paris). 2025 05 30;: