Department of Genomic Medicine, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
Department of Medicine, Faculty of Medicine Dentistry and Health Sciences, University of Melbourne, Parkville, Victoria, Australia.
Int J Geriatr Psychiatry. 2021 Aug;36(8):1158-1170. doi: 10.1002/gps.5535. Epub 2021 Mar 28.
When a genetic cause is suspected in a person with dementia, it creates unique diagnostic and management challenges to the treating clinician. Many clinicians may be unaware of the practicalities surrounding genetic testing for their patients, such as when to test and what tests to use and how to counsel patients and their families. This review was conducted to provide guidance to clinicians caring for patients with dementia regarding clinically relevant genetics.
We searched PubMed for studies that involved genetics of dementia up to March 2020. Patient file reviews were also conducted to create composite cases.
In addition to families where a strong Mendelian pattern of family history is seen, people with younger age of onset, especially before the age of 65 years were found to be at an increased risk of harbouring a genetic cause for their dementia. This review discusses some of the most common genetic syndromes, including Alzheimer disease, frontotemporal dementia, vascular dementia, Parkinson disease dementia/dementia with Lewy bodies and some rarer types of genetic dementias, along with illustrative clinical case studies. This is followed by a brief review of the current genetic technologies and a discussion on the unique genetic counselling issues in dementia.
Inclusion of genetic testing in the diagnostic pathway in some patients with dementia could potentially reduce the time taken to diagnose the cause of their dementia. Although a definite advantage as an addition to the diagnostic repository, genetic testing has many pros and cons which need to be carefully considered first.
当怀疑痴呆患者存在遗传病因时，这会给治疗医生带来独特的诊断和管理挑战。许多医生可能不知道为患者进行基因检测的实际情况，例如何时进行检测、使用哪些检测以及如何为患者及其家属提供咨询。本综述旨在为照顾痴呆患者的医生提供与临床相关的遗传学方面的指导。
我们在 PubMed 上搜索了截至 2020 年 3 月的与痴呆症遗传学相关的研究。还进行了患者病历回顾以创建综合病例。
除了家族中有明显孟德尔遗传模式的家庭外，发病年龄较早，尤其是 65 岁以前的患者，其痴呆症的遗传病因风险增加。本综述讨论了一些最常见的遗传综合征，包括阿尔茨海默病、额颞叶痴呆、血管性痴呆、帕金森病痴呆/路易体痴呆以及一些罕见的遗传性痴呆症，并附有临床病例研究。接着简要回顾了当前的遗传技术，并讨论了痴呆症中独特的遗传咨询问题。
在某些痴呆患者的诊断途径中纳入基因检测，有可能缩短诊断其痴呆病因所需的时间。尽管作为诊断库的补充有明确的优势，但基因检测有许多利弊，需要先仔细考虑。
