ABSTRACT
Objective To analyze the clinical presentation and genotype of a Chinese pedigree with early-onset familial Alzheimer's disease.Methods A pedigree with early-onset familial 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 the proband was also investigated in some family members.Results There were five members with Alzheimer's disease in the pedigree,including the proband,a 42 years old female.The onset age of a pedigree member was 33 years and that of the proband was 37 years.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.Conclusions The M233T mutation of PS1 gene can lead to early-onset familial Alzheimer's disease.This family is the first pedigree with M233T mutation of PS1 gene in China,which deserves clinical attention.