Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene

摘要: It is now 10 years since the first report of mutations in presenilin genes that were deterministic for familial autosomal dominant Alzheimer's disease. The most common these occurs presenilin–1 gene (PSEN1) located on chromosome 14. In ensuing decade, more than 100 PSEN1 have been described. emphasis reports has largely novelty and their potential pathogenic consequences rather detailed clinical, neuropsychological, neuroimaging neuropathological accounts patients with mutation. This article reviews clinical phenotypes reported mutations, emphasizing heterogeneity, suggesting other factors, both genetic epigenetic,must contribute to disease phenotype.