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.