Article
A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Alzheimer disease and associated disorders - 1 Jan 2000
Thomas Quentin, Nambot Sophie, Béjot Yannick, Philippe Christophe, Faivre Laurence, Duffourd Yannis, Thauvin-Robinet Christel, Dupont Gwendoline
Abstract excerpt
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...
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