{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:49:16Z","timestamp":1777394956970,"version":"3.51.4"},"reference-count":45,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T00:00:00Z","timestamp":1480377600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2017,1,12]]},"abstract":"<jats:p>Familial Alzheimer\u2019s disease (FAD) mutations have very high penetrance but age at onset and rate of disease progression differ. Neuroimaging and cerebrospinal fluid (CSF) examinations in mutation carriers (MCs) may provide an opportunity to identify early biomarkers that can be used to track disease progression from presymptomatic to the dementia stages of disease. The default mode network (DMN) is a resting state neuronal network composed of regions known to associate with amyloid deposition in AD. We hypothesized that functional connectivity in the DMN might change at pre-clinical stages in FAD MCs and correlate with changes in CSF biomarkers as a consequence of AD brain pathology. To test the hypothesis, we compared the functional connectivity in DMN between pre-MCs\/MCs and non-carriers (NCs). No significant differences between pre-MCs and NCs were observed. When comparing all MCs with NCs, significant decreased functional connectivity in the right inferior parietal lobule, right precuneus, and left posterior cingulate cortex were found. We also found statistically significant correlations between CSF amyloid-\u03b2 42 and tau protein levels and average Z-score, a resting-state functional MRI measurement reflecting the degree of the correlation between a given voxel\u2019s time courses and the time courses corresponding to DMN, from the region with statistical difference. The observed disruption of DMN and pathological levels of AD CSF-biomarkers in FAD MCs are similar to the changes described in sporadic AD, which give further support that amyloid and tau pathology impairs neuronal and synaptic function.<\/jats:p>","DOI":"10.3233\/jad-160730","type":"journal-article","created":{"date-parts":[[2016,11,29]],"date-time":"2016-11-29T11:42:43Z","timestamp":1480419763000},"page":"327-334","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["The Effects of Gene Mutations on\u00a0Default\u00a0Mode Network in\u00a0Familial\u00a0Alzheimer\u2019s Disease"],"prefix":"10.1177","volume":"56","author":[{"given":"Xiaozhen","family":"Li","sequence":"first","affiliation":[{"name":"Department of Radiology, Dongzhimen Hospital affiliated to Beijing University of Chinese Medicine, Beijing, China"},{"name":"Division of Clinical Geriatrics, Center for Alzheimer Disease Research, Department of 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