Abstract
Objective To analyze the clinical manifestation, imaging data and genetics mutation variants of late onset familial Alzheimer's disease concomitant with a novel mutation of presenilin 1. Methods The clinical manifestations and auxiliary examination recordings of the pedigree were analyzed.DNA was extracted from peripheral blood samples of the proband and her sons.Mutational analysis was performed by the next-generation sequencing technology and the mutation event was confirmed by Sanger sequencing technology. Results Two patients of the family presenting as Alzheimer's dementia were late onset.MRI of the proband showed extensive cerebral microbleeds.The gene detection showed p. S289P mutation in the exon 8 of presenilin 1 of the proband. Conclusion Mutation of p. S289P in the presenilin 1 gene may contribute to late onset Alzheimer's disease accompanied by amyloid angiopathy. Key words: Alzheimer's disease; Presenilin 1; Cerebral microbleeds; Amyloid angiopathy
Published Version
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