A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.

Date publication

mars 2022

Journal

Alzheimer disease and associated disorders

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence , Pr PHILIPPE Christophe , Dr NAMBOT Sophie , Mr DUFFOURD Yannis , Pr THAUVIN-ROBINET Christel

Tous les auteurs :
Thomas Q, Nambot S, Béjot Y, Philippe C, Faivre L, Duffourd Y, Thauvin-Robinet C, Dupont G

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/35383591

Résumé

Early-onset forms of Alzheimer disease (AD) have been associated with pathogenic variants in the APP, PSEN1, and PSEN2 genes. Mutations in presenilin-1 (PSEN1) account for the majority of cases of autosomal dominant AD. Numerous phenotypes have been associated with PSEN1-pathogenic variants, including cerebellar ataxia and spastic paraplegia. Here, we describe a patient with early-onset AD presenting with extrapyramidal symptoms and supranuclear gaze palsy, mimicking progressive supranuclear palsy.

Référence

Alzheimer Dis Assoc Disord. 2022 Mar 30;: