Investigation Of A Chinese Pedigree With Early-Onset Familial Alzheimer's Disease Caused By Presenilin 1 P.m233t Mutation

Objective: To analyze the clinical presentation and genotype of a Chinese pedigree with early-onset Alzheimer's disease.Method: A pedigree with early-onset Alzheimer's disease was recruited.The clinical data of the proband who admitted to Shengjing Hospital in March 2018 and the family members were collected.The DNA sequences of 53 dementia related genes were screened using next-generation sequencing technology in the blood sample of the proband.The point mutation discovered in proband was also investigated in some family members.Result: There are five members with Alzheimer's disease in the pedigree,including the proband,a 42 years old female.The age of onset was 33 years in one pedigree member(?4),and 37 years in the proband.A point mutation from T to C at position 698(M233T)in the exon 7 of presenilin 1(PS1)gene was found in the proband and two other family members who were clinically normal.Conclusion: The M233 T mutation of PS1 gene can lead to early-onset familial Alzheimer's disease.This family is the first pedigree with M233 T mutation of PS1 in China,which deserves clinical attention..