■全球最大的单一突变导致常染色体显性遗传阿尔茨海默病(ADAD)的家族是一个来自Antioquia的家族,哥伦比亚,携带早老素-1(PSEN1)E280A(Paisa)突变。大多数突变携带者会患上痴呆症,通常在30年代后期开始,发病年龄中位数为49岁。认知下降是一个标志性特征。
■这篇综述综合了有关PSEN1E280A突变携带者整个生命周期中神经心理学评估的现有文献。我们提供了这个独特人群的认知结果的全面概述。
■我们回顾并整合了已发表的研究,分析PSEN1E280A携带者的神经心理学评估研究。我们的重点是口头措施,语义,情节,和空间记忆,涵盖了其他认知领域,如语言,注意,视觉空间记忆,和执行功能。
■言语,语义,情节,和空间记忆成为PSEN1E280A携带者临床前变化的最敏感指标。在评估语言的测试结果中发现了不一致,注意,视觉空间记忆,和执行功能,提示检测PSEN1突变携带者早期认知变化的潜在局限性。为该人群开发的特定认知任务被证明是有效的,但未得到充分利用。
■该评论强调了为检测PSEN1E280A携带者的早期认知变化而量身定制的持续测试开发的重要性,可能增强ADAD筛查。此外,调查儿童的ADAD突变可能会发现AD的早期变化,并增强我们对整个生命周期中神经心理功能的理解。这一综合为研究人员提供了有价值的见解,临床医生,以及从事ADAD研究和管理的政策制定者。
UNASSIGNED: The largest identified kindred worldwide with a single mutation causing autosomal-dominant Alzheimer\'s disease (ADAD) is a family from Antioquia, Colombia, carrying the Presenilin-1 (PSEN1) E280A (Paisa) mutation. The majority of mutation carriers develop dementia, typically commencing in their late 30 s, with a median onset age of 49 years. Cognitive decline is a hallmark feature.
UNASSIGNED: This
review synthesizes the existing literature on neuropsychological assessments in PSEN1 E280A mutation carriers throughout their lifespan. We provide a comprehensive overview of cognitive outcomes in this unique population.
UNASSIGNED: We reviewed and integrated the published research, analyzing studies on neuropsychological assessments in PSEN1 E280A carriers. Our focus was on measures of verbal, semantic, episodic, and spatial memory, and encompassed other cognitive domains such as language, attention, visuospatial memory, and executive functioning.
UNASSIGNED: Verbal, semantic, episodic, and spatial memory emerged as the most sensitive indicators of preclinical changes in PSEN1 E280A carriers. Inconsistencies were noted in findings from tests assessing language, attention, visuospatial memory, and executive functioning, suggesting potential limitations in detecting early cognitive changes in PSEN1 mutation carriers. Specific cognitive tasks developed for this population proved effective but underutilized.
UNASSIGNED: The
review underscores the importance of continued test development tailored to detect early cognitive changes in PSEN1 E280A carriers, potentially enhancing ADAD screening. Furthermore, investigating ADAD mutations in children may identify early changes in AD and enhance our understanding of neuropsychological functioning across the lifespan. This synthesis provides valuable insights for researchers, clinicians, and policymakers engaged in the study and management of ADAD.