A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report

We describe a 52-year-old patient with a progressive visuospatial disorder and apraxia. Neuropsychological assessment, neuroradiological findings, and Alzheimer’s disease (AD) core biomarker assay on cerebrospinal fluid led to a diagnosis of posterior cortical atrophy due to AD. We performed a next...

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Detalles Bibliográficos
Autores principales: Roveta, Fausto, Marcinnò, Andrea, Grassini, Alberto, Ferrandes, Fabio, Cermelli, Aurora, Boschi, Silvia, Gallone, Salvatore, Atzori, Cristiana, Imperiale, Daniele, Dentelli, Patrizia, Pasini, Barbara, Brusco, Alfredo, Rubino, Elisa, Rainero, Innocenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259045/
https://www.ncbi.nlm.nih.gov/pubmed/37313494
http://dx.doi.org/10.3233/ADR230023
Descripción
Sumario:We describe a 52-year-old patient with a progressive visuospatial disorder and apraxia. Neuropsychological assessment, neuroradiological findings, and Alzheimer’s disease (AD) core biomarker assay on cerebrospinal fluid led to a diagnosis of posterior cortical atrophy due to AD. We performed a next generation sequencing dementia-gene panel and found the c.1301 C>T p.(Ala434Val) variant in the Presenilin1 (PSEN1) gene. The missense change affects the PAL (Pro433-Ala434-Leu435) motif critical for catalytic activity of the macromolecular γ-secretase complex. Evolutionary and integrated bioinformatic tools predicted a deleterious effect of the variant supporting its role in the AD pathogenesis.

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