Objective: To explore the relationship between the presenilin-1 mutation and pathological changes of Alzheimer disease by analyzing the effects of presenilin-1 mutation on amyloid β precursor protein metabolism and the modification on tau protein abnormality and neuronal apoptosis. Data sources: We searched the Medline database for related articles on presenilin-1, gene mutation and Alzheimer disease published from January 1995 to September 2005 with the key words "presenilin 1,mutation, Alzheimer" in English. Meanwhile, we retrieved similar articles in CNKI database published from January 1995 to September 2005 in Chinese with the same key words. Study selection: The 406 related articles were screened, and references more than 20 mainly about presenilin-1 mutation were selected, including patients, animals and cells. If there were similar content in the articles, those published in the authority journals recent 3 years were preferential. Data extraction: All the screened 22 articles according to the biological functions and pathological functions of presenilin-1 were classifled: there were 4 articles related to the biological functions of presenilin-1, 10 articles related to presenilin-1 and amyloid β precursor protein metabolism, 4 articles related to presenilin-1 and tau abnormal modification and 4 articles related to presenilin-1 and neuronal apoptosis. Data synthesis: The 22 articles information combination showed that presenilin-1 might be act as γ-secretase itself or active center to influence amyloid β precursor protein metabolism so as to enhance the production of amyloid β 42 protein. The presenilin-1 could regulate protein kinase and phosphatase active level through some important signal transduction pathways, which could enhance the level of abnormal phosphorylation of tau, and also influence neuron sensitivities to apoptosis. Conclusion: The presenilin-1 mutation is the main cause of familial Alzheimer disease, which can lead to pathological changes of Alzheimer disease through various mechanisms.