Villalba Arvey Camilo, García Jenny, Ramos Claudia, Cuastumal Amanda Rosario, Aguillón David, Aguirre-Acevedo Daniel Camilo, Madrigal Lucia, Lopera Francisco
Department of Psychiatry, Faculty of Medicine of the University of Antioquia, Medellín, Antioquia, Colombia.
Academic Group in Clinical Epidemiology (GRAEPIC), Faculty of Medicine of the University of Antioquia, Medellín, Antioquia, Colombia.
J Alzheimers Dis Rep. 2019 Aug 29;3(1):241-250. doi: 10.3233/ADR-190139.
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 (). Studying families of people with this mutation allows the evaluation of characteristics of the subjects before cognitive decline begins.
To determine whether having the mutation E280A in 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.
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 . The occurrence of mental disorders between carriers and non-carriers of the mutation was compared.
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.
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.
存在一些具有常染色体显性遗传模式的阿尔茨海默病（AD）类型；其中一种是由编码早老素-1（）的基因中的E280A突变引起的。研究携带这种突变的人的家族，有助于在认知衰退开始前评估受试者的特征。
确定在处于AD临床前期且可能符合AD一级预防研究条件的30岁以下成年人中，携带E280A突变是否会增加出现精神障碍的风险。
对120名有早发性AD家族史的人进行了精神病学评估。其中，62人携带中的E280A突变。比较了突变携带者和非携带者中精神障碍的发生率。
在突变携带者组和非携带者组之间，任何精神障碍的发生频率均未发现有统计学意义的差异（风险比：0.80，95%可信区间0.49至1.31）；在评估特定障碍时也未观察到差异。
E280A突变不会增加家族性AD患者亲属在30岁之前出现精神障碍的风险。需要进行更大样本量的研究来评估低发病率精神障碍的风险。
