[Presenilin 1 p. F105L mutation was associated with a Chinese pedigree with early-onset familial Alzheimer's disease]

Objective: To investigate the clinical manifestations of an early-onset Alzheimer's family and the novel mutation sites of PSEN1 gene. Methods: Clinical data was collected from 30 members of a family with early onset Alzheimer's disease from Neurology Department of Henan Province People's Hospital in 2016, and high-throughput sequencing and sanger sequencing were used to detect and further validate the PSEN1 gene mutation. At the same time, 100 unrelated healthy people were selected as controls. Results: A total of 3 members of the family carried PSEN1 (p.F105L mutation). The clinical symptoms or imaging of the three people were consistent with the diagnosis of Alzheimer's disease. Conclusion: The p. F105L mutation of the PSEN1 gene has been found in the Chinese population, which may be involved in the pathogenesis of this familial Alzheimer's disease.