Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, 630 W. 168th St., P & S Box 16, New York, NY 10032, USA.
Curr Neurol Neurosci Rep. 2012 Oct;12(5):502-10. doi: 10.1007/s11910-012-0296-1.
The discovery of new autosomal dominant and susceptibility genes for Alzheimer's disease (AD) and frontotemporal degeneration (FTD) is revealing important new information about the neurodegenerative process and the risk for acquiring these diseases. It is becoming increasingly clear that both the mechanisms that drive these diseases and their phenotypes overlap. New technologies will assist access to genetic testing but may increase difficulty with genetic test interpretation. Thus, the process of genetic counseling and testing for these diseases is becoming more complex. This article will review current knowledge on the genetics of AD and FTD and suggest clinical guidelines for helping families to navigate through these complexities. The implications of future discoveries will be offered.
新的常染色体显性遗传和阿尔茨海默病（AD）及额颞叶变性（FTD）易感性基因的发现，为神经退行性过程和罹患这些疾病的风险提供了重要的新信息。越来越明显的是，推动这些疾病的机制及其表型是重叠的。新技术将有助于进行基因检测，但可能会增加遗传检测解释的难度。因此，这些疾病的遗传咨询和检测过程变得更加复杂。本文将综述 AD 和 FTD 遗传学的现有知识，并为帮助患者家庭应对这些复杂性提供临床指导建议。同时还将探讨未来发现的意义。
