PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review

Background: Monogenic Alzheimer’s disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 (PSEN2) gene mutations. We present two new cases with presumed PSEN2-AD with unusual clinical and neuroimaging findings in order to provide more information on the patho...

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Bibliographic Details
Published in:	Biomedicines Vol. 12; no. 8; p. 1881
Main Authors:	Minguillón Pereiro, Anxo Manuel, Quintáns Castro, Beatriz, Ouro Villasante, Alberto, Aldrey Vázquez, José Manuel, Cortés Hernández, Julia, Aramburu-Núñez, Marta, Arias Gómez, Manuel, Jiménez Martín, Isabel, Sobrino, Tomás, Pías-Peleteiro, Juan Manuel
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 01.08.2024 MDPI
Subjects:	Activities of daily living Age Alzheimer's disease Atrophy Behavior Biomarkers Brain research Case Report Case reports Case studies Cerebrospinal fluid Dementia Dementia disorders Diagnosis Diagnosis, Differential Frontotemporal dementia Gene mutations Genes Genetic aspects Genomes Genomics Magnetic resonance imaging Medical history Medical imaging Memory Mutation Myelin Neurodegenerative diseases Neuroimaging Neuropsychology Peptides phenocopies Plasma Point mutation Presenilin 2 Proteins Substantia alba white matter hyperintensities Spain United States > US phenocopies presenilin 2 frontotemporal dementia Alzheimer’s disease white matter hyperintensities
ISSN:	2227-9059, 2227-9059
Online Access:	Get full text
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