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

Fiche publication

Date publication

mars 2022


Alzheimer disease and associated disorders


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

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


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.


Alzheimer Dis Assoc Disord. 2022 Mar 30;: