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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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
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author 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
author_facet 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
author_sort Roveta, Fausto
collection PubMed
description 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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spelling pubmed-102590452023-06-13 A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report 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 J Alzheimers Dis Rep Short Communication 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. IOS Press 2023-05-31 /pmc/articles/PMC10259045/ /pubmed/37313494 http://dx.doi.org/10.3233/ADR230023 Text en © 2023 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communication
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
A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title_full A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title_fullStr A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title_full_unstemmed A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title_short A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report
title_sort novel psen1 variant leading to posterior cortical atrophy: a case report
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259045/
https://www.ncbi.nlm.nih.gov/pubmed/37313494
http://dx.doi.org/10.3233/ADR230023
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