A Chinese pedigree with early-onset familial Alzheimer′s disease caused by presenilin 1 p.G378E mutation

VernacularTitle:早老素1基因p.G378 E突变导致的早发家族性阿尔茨海默病一家系
Author: Quanquan WANG ; Yanlei HAO ; Yan YANG ; Qingxia KONG ; Shuhu ZHOU ; Zhanyun LYU
Keywords: Alzheimer disease; familial; PSEN1 gene; Gene mutation
From: Chinese Journal of Neurology 2017;50(3):208-212
CountryChina
Language:Chinese
Abstract: Objective To investigate the phenotypes and genetics of an early-onset familial Alzheimer′s disease ( EO-FAD ) family.Methods The clinical manifestations , brain MRI results and neuropathological findings of the proband and pedigree members of the EO -FAD family were evaluated. Autopsy was performed in the proband . Results Fifteen members of this family had a presenilin 1 (PSEN1) p.G378E mutation and nine of them had clinical manifestations or the MRI changes of EO -FAD. Neuropathological findings from autopsy of the proband disclosed moderate cortical atrophy throughout the brain, especially in frontal lobe and temporal lobe .Neuronal loss with gliosis was observed in the cortices of the frontal, temporal and occipital lobes , as well as in parahippocampal gyrus .Numerous senile plaques and neurofibrillary tangles were present in the cerebral cortex .The proband′s younger sister showed similar clinical presentations and MRI changes , and other members of this family demonstrated progressive memory loss.Conclusion A p.G378E mutation in the PSENl gene was identified in a Chinese EO-FAD pedigree.