School of Medicine, Wuhan University of Science and Technology, Wuhan, China.
J Int Neuropsychol Soc. 2013 Aug;19(7):809-19. doi: 10.1017/S1355617713000581. Epub 2013 Jun 7.
A family history of dementia is associated with an increased risk of developing Alzheimer's disease (AD) late in life (LOAD). This study marked the first attempt to assess the familial contribution to differences in cognitive performance in a large family-based group in the Chinese community. We enrolled 168 participants without dementia from a single pedigree with 9 probable AD patients diagnosed after age 65. These participants were evaluated with a comprehensive neuropsychological battery, the Chinese version of the Mini Mental State Examination, and the Alzheimer Disease Assessment Scale-Cognitive Subscale. Analyses found that extended family members of the LOAD pedigree showed similar performance on measures of global cognitive function and semantic memory compared to controls, but lower scores on episodic memory, attention, and executive function measures. These results indicate that the genetic influences on certain sub-cognitive domains are more detectable despite normal global cognitive function, and that family members with the LOAD pedigree are at risk for developing LOAD by virtue of their family history with an additive risk due to increased age. The findings in this study support the importance of documenting if there is a positive family history of AD in clinical evaluations.
家族性痴呆病史与晚年(LOAD)发生阿尔茨海默病(AD)的风险增加有关。这项研究首次尝试评估一个大型家族性群体中认知表现差异的家族贡献,该群体来自一个单一的家系,其中有 9 名可能的 AD 患者在 65 岁后被诊断。这些参与者接受了全面的神经心理学测试、中文版简易精神状态检查和阿尔茨海默病评估量表认知分量表的评估。分析发现,LOAD 家系的远亲在全球认知功能和语义记忆方面的表现与对照组相似,但在情节记忆、注意力和执行功能方面的得分较低。这些结果表明,尽管全球认知功能正常,但某些亚认知领域的遗传影响更容易被检测到,并且由于年龄增加而导致的累加风险,LOAD 家系的家庭成员患 LOAD 的风险更高。本研究的结果支持在临床评估中记录 AD 阳性家族史的重要性。