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

•PSEN1 mutation carrier was associated with a smaller hippocampal volume.•PSEN1 mutation carrier status was associated with increased hippocampal amyloid deposition.•PSEN1 was associated with decreased cerebral glucose metabolism. 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