阿尔茨海默病及相关认知障碍疾病与早老素2基因相关性的研究进展

Research progress on the relationship between Alzheimer's disease and related cognitive disorders and presenilin 2 gene

阿尔茨海默病(AD)及相关认知障碍疾病,如额颞叶痴呆、路易体痴呆、帕金森病性痴呆、大脑后部皮质萎缩(PCA),皆属于神经系统退行性病变,具有不可逆性,是引起中老年患者发生认知障碍的重要原因,尤其是导致早期认知功能减退。早老素2(PS2)基因与此类疾病的发生、发展密切相关,且其发生基因突变的概率较为罕见,容易被患者和临床医师忽视。因此本文通过阐述AD及相关认知障碍疾病定义及其与PS2基因的相关性研究进展,以增进临床医师和公众对此类疾病的认识和理解,及时做好早期预防和干预。

Alzheimer's disease(AD)and related cognitive disorders,such as frontotemporal lobe dementia,Lewy body dementia,Parkinson's disease dementia,and posterior cerebral cortex atrophy,belong to neurodegenerative changes which are irreversible.They are global problems that cause cognitive impairment in young and elderly patients,especially early cognitive impairment.The presenilin 2(PS2)gene is closely related to the occurrence and development of such diseases,and its probability of gene mutation is relatively rare,which is easy to be ignored by patients and clinicians.Therefore,this article describes the definition of AD and related cognitive disorders and the progress of research on the relationship between AD and PS2 gene,to improve the awareness and understanding of clinicians and the public on such diseases,and do early prevention and intervention in time.