Presenilin-1 mutation is associated with a hippocampus defect in alzheimer's disease: Meta-Analysis for neuroimaging research

Observational studies suggested an association of the Presenilin-1 (PSEN1) genotype with neuroimaging markers within Alzheimer's disease. However, whether the PSEN1 genotype and neuroimaging markers is a harbinger of Alzheimer's disease remains controversial. We aimed to examine the association of the PSEN1 mutation with neuroimaging markers in Alzheimer's disease: hippocampal volume, cerebral metabolism and brain amyloid deposition. We performed a systematic review and meta-analysis of 13 studies identified in Pubmed and Medline from 1997 to 2019 (n= 164). The pooled standard mean difference (SMD) was used to evaluate the association between the PSEN1 mutation and hippocampal volume and cerebral metabolism rate for glucose (CMRgl). A meta-analysis was also performed regarding the amyloid deposition between the PSEN1+ and PSEN1- groups. In order to accurately study whether PSEN1 independently was associated with changes in related image markers, sub-meta analyses was performed. The PSEN1 mutation was associated with a smaller hippocampal volume (pooled SMD: -3.3; 95 % CI: -5.36 to -1.24; p= 0.002) and decreased cerebral metabolism (pooled SMD: -1.73; 95 % CI: -2.7 to -0.76; p < 0.0001). Additionally, PSEN1 was associated with increased cerebral amyloid deposition as detected by a positron emission tomography tracer (pooled SMD: 4.58; 95 % CI: 1.37-7.8; p= 0.0005). PSEN1 was associated with a decreased hippocampal volume in MRI markers, cerebral glucose hypometabolism, and increased cerebral amyloid deposition. These associations may indicate the potential role of neuroimaging markers for the diagnosis of Alzheimer's disease.