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dc.contributor.authorFuller, Joshuaen_US
dc.contributor.authorCronin-Golomb, Aliceen_US
dc.contributor.authorGatchel, J. R.en_US
dc.contributor.authorNorton, Daniel J.en_US
dc.contributor.authorGuzman-Velez, E.en_US
dc.contributor.authorJacobs, H. I. L.en_US
dc.contributor.authorHansseuw, B.en_US
dc.contributor.authorPardilla-Delgado, E.en_US
dc.contributor.authorArtola, A.en_US
dc.contributor.authorBaena, A.en_US
dc.contributor.authorBocanegra, Y.en_US
dc.contributor.authorChen, K.en_US
dc.contributor.authorTariot, P.en_US
dc.contributor.authorJohnson, K.en_US
dc.contributor.authorSperling, R. A.en_US
dc.contributor.authorReiman, E. M.en_US
dc.contributor.authorLopera, F.en_US
dc.contributor.authorQuiroz, Yakeel T.en_US
dc.date2018-12-12
dc.date.accessioned2019-06-06T13:50:27Z
dc.date.available2019-06-06T13:50:27Z
dc.date.issued2019
dc.identifierhttps://www.ncbi.nlm.nih.gov/pubmed/30756118
dc.identifier.citationJoshua Fuller, Alice Cronin-Golomb, JR Gatchel, Daniel J Norton, E Guzman-Velez, HIL Jacobs, B Hansseuw, E Pardilla-Delgado, A Artola, A Baena, Y Bocanegra, K Chen, P Tariot, K Johnson, RA Sperling, EM Reiman, F Lopera, Yakeel T Quiroz. 2019. "Cognitive and brain imaging markers of presenilin1 e280a autosomal dominant Alzheimer’s disease: Findings from the Colombian kindred." The Journal of Prevention of Alzheimer's Disease, https://doi.org/10.14283/jpad.2019.6
dc.identifier.issn2274-5807
dc.identifier.urihttps://hdl.handle.net/2144/35948
dc.description.abstractThe study of individuals with autosomal dominant Alzheimer's disease affords one of the best opportunities to characterize the biological and cognitive changes of Alzheimer's disease that occur over the course of the preclinical and symptomatic stages. Unifying the knowledge gained from the past three decades of research in the world's largest single-mutation autosomal dominant Alzheimer's disease kindred - a family in Antioquia, Colombia with the E280A mutation in the Presenilin1 gene - will provide new directions for Alzheimer's research and a framework for generalizing the findings from this cohort to the more common sporadic form of Alzheimer's disease. As this specific mutation is virtually 100% penetrant for the development of the disease by midlife, we use a previously defined median age of onset for mild cognitive impairment for this cohort to examine the trajectory of the biological and cognitive markers of the disease as a function of the carriers' estimated years to clinical onset. Studies from this cohort suggest that structural and functional brain abnormalities - such as cortical thinning and hyperactivation in memory networks - as well as differences in biofluid and in vivo measurements of Alzheimer's-related pathological proteins distinguish Presenilin1 E280A mutation carriers from non-carriers as early as childhood, or approximately three decades before the median age of onset of clinical symptoms. We conclude our review with discussion on future directions for Alzheimer's disease research, with specific emphasis on ways to design studies that compare the generalizability of research in autosomal dominant Alzheimer's disease to the larger sporadic Alzheimer's disease population.en_US
dc.language.isoen_US
dc.publisherSpringer International Publishingen_US
dc.relation.ispartofThe Journal of Prevention of Alzheimer's Disease
dc.subjectAutosomal dominant Alzheimer’s diseaseen_US
dc.subjectCognitive markersen_US
dc.subjectBiomarkersen_US
dc.subjectDementiaen_US
dc.titleCognitive and brain imaging markers of presenilin1 e280a autosomal dominant Alzheimer’s disease: findings from the Colombian kindreden_US
dc.typeArticleen_US
dc.description.versionAccepted manuscripten_US
dc.identifier.doi10.14283/jpad.2019.6
pubs.elements-sourcemanual-entryen_US
pubs.notesEmbargo: Not knownen_US
pubs.organisational-groupBoston Universityen_US
pubs.organisational-groupBoston University, College of Arts & Sciencesen_US
pubs.organisational-groupBoston University, College of Arts & Sciences, Department of Psychological & Brain Sciencesen_US
pubs.publication-statusPublisheden_US
dc.identifier.orcid0000-0001-5699-6204 (Cronin-Golomb, Alice)
dc.identifier.mycv428439


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