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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., (Copyright © 2020 Elsevier B.V. All rights reserved.)