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Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease

BACKGROUND: There are forms of Alzheimer’s disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the sub...

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Autores principales: Villalba, Arvey Camilo, García, Jenny, Ramos, Claudia, Cuastumal, Amanda Rosario, Aguillón, David, Aguirre-Acevedo, Daniel Camilo, Madrigal, Lucia, Lopera, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839534/
https://www.ncbi.nlm.nih.gov/pubmed/31754656
http://dx.doi.org/10.3233/ADR-190139
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author Villalba, Arvey Camilo
García, Jenny
Ramos, Claudia
Cuastumal, Amanda Rosario
Aguillón, David
Aguirre-Acevedo, Daniel Camilo
Madrigal, Lucia
Lopera, Francisco
author_facet Villalba, Arvey Camilo
García, Jenny
Ramos, Claudia
Cuastumal, Amanda Rosario
Aguillón, David
Aguirre-Acevedo, Daniel Camilo
Madrigal, Lucia
Lopera, Francisco
author_sort Villalba, Arvey Camilo
collection PubMed
description BACKGROUND: There are forms of Alzheimer’s disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins. OBJECTIVE: To determine whether having the mutation E280A in PSEN1 increases the risk of presenting mental disorders in adults under 30 years old who are in the preclinical stage of AD and may be eligible for primary prevention studies of AD. METHODS: A psychiatric evaluation was made to 120 people belonging to families with a history of early onset AD. Of these, 62 carried the E280A mutation in PSEN1. The occurrence of mental disorders between carriers and non-carriers of the mutation was compared. RESULTS: No statistically significant differences were found in the frequency of any mental disorder between the group of carriers and non-carriers of the mutation (Hazard Ratio: 0.80, 95% CI 0.49 to 1.31); nor were differences observed when evaluating specific disorders. CONCLUSION: The E280A mutation does not increase the risk of mental disorders before the age of 30 in the relatives of people affected by familial AD. Studies with larger sample sizes are required to assess the risk of low incidence mental disorders.
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spelling pubmed-68395342019-11-21 Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease Villalba, Arvey Camilo García, Jenny Ramos, Claudia Cuastumal, Amanda Rosario Aguillón, David Aguirre-Acevedo, Daniel Camilo Madrigal, Lucia Lopera, Francisco J Alzheimers Dis Rep Research Article BACKGROUND: There are forms of Alzheimer’s disease (AD) that have an autosomal dominant inheritance pattern; one of them is caused by the E280A mutation in the gene that codes for Presenilin-1 (PSEN1). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins. OBJECTIVE: To determine whether having the mutation E280A in PSEN1 increases the risk of presenting mental disorders in adults under 30 years old who are in the preclinical stage of AD and may be eligible for primary prevention studies of AD. METHODS: A psychiatric evaluation was made to 120 people belonging to families with a history of early onset AD. Of these, 62 carried the E280A mutation in PSEN1. The occurrence of mental disorders between carriers and non-carriers of the mutation was compared. RESULTS: No statistically significant differences were found in the frequency of any mental disorder between the group of carriers and non-carriers of the mutation (Hazard Ratio: 0.80, 95% CI 0.49 to 1.31); nor were differences observed when evaluating specific disorders. CONCLUSION: The E280A mutation does not increase the risk of mental disorders before the age of 30 in the relatives of people affected by familial AD. Studies with larger sample sizes are required to assess the risk of low incidence mental disorders. IOS Press 2019-08-29 /pmc/articles/PMC6839534/ /pubmed/31754656 http://dx.doi.org/10.3233/ADR-190139 Text en © 2019 – IOS Press and the authors. All rights reserved 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 Research Article
Villalba, Arvey Camilo
García, Jenny
Ramos, Claudia
Cuastumal, Amanda Rosario
Aguillón, David
Aguirre-Acevedo, Daniel Camilo
Madrigal, Lucia
Lopera, Francisco
Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title_full Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title_fullStr Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title_full_unstemmed Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title_short Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer’s Disease
title_sort mental disorders in young adults from families with the presenilin-1 gene mutation e280a in the preclinical stage of alzheimer’s disease
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839534/
https://www.ncbi.nlm.nih.gov/pubmed/31754656
http://dx.doi.org/10.3233/ADR-190139
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