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Both sporadic early-onset Alzheimer\u2019s disease and dominantly inherited Alzheimer\u2019s disease are characterized by brain amyloid-\u03b2 accumulation, tau tangles, hypometabolism and neurodegeneration, but differences in topography and magnitude of these pathological changes are not fully elucidated. In this study, we directly compared patterns of amyloid-\u03b2 plaque deposition and glucose hypometabolism in sporadic early-onset Alzheimer\u2019s disease and dominantly inherited Alzheimer\u2019s disease individuals. Our analysis included 134 symptomatic sporadic early-onset Alzheimer\u2019s disease amyloid-Positron Emission Tomography (PET)-positive cases from the University of California, San Francisco, Alzheimer\u2019s Disease Research Center (mean \u00b1 SD age 59.7 \u00b1 5.6 years), 89 symptomatic dominantly inherited Alzheimer\u2019s disease cases (age 45.8 \u00b1 9.3 years) and 102 cognitively unimpaired non-mutation carriers from the Dominantly Inherited Alzheimer Network study (age 44.9 \u00b1 9.2). Each group underwent clinical and cognitive examinations, 11C-labelled Pittsburgh Compound B-PET and structural MRI. 18F-Fluorodeoxyglucose-PET was also available for most participants. Positron Emission Tomography scans from both studies were uniformly processed to obtain a standardized uptake value ratio (PIB50\u201370 cerebellar grey reference and FDG30\u201360 pons reference) images. Statistical analyses included pairwise global and voxelwise group comparisons and group-independent component analyses. Analyses were performed also adjusting for covariates including age, sex, Mini-Mental State Examination, apolipoprotein \u03b54 status and average composite cortical of standardized uptake value ratio. Compared with dominantly inherited Alzheimer\u2019s disease, sporadic early-onset Alzheimer\u2019s disease participants were older at age of onset (mean \u00b1 SD, 54.8 \u00b1 8.2 versus 41.9 \u00b1 8.2, Cohen\u2019s d = 1.91), with more years of education (16.4 \u00b1 2.8 versus 13.5 \u00b1 3.2, d = 1) and more likely to be apolipoprotein \u03b54 carriers (54.6% \u03b54 versus 28.1%, Cramer\u2019s V = 0.26), but similar Mini-Mental State Examination (20.6 \u00b1 6.1 versus 21.2 \u00b1 7.4, d = 0.08). Sporadic early-onset Alzheimer\u2019s disease had higher global cortical Pittsburgh Compound B-PET binding (mean \u00b1 SD standardized uptake value ratio, 1.92 \u00b1 0.29 versus 1.58 \u00b1 0.44, d = 0.96) and greater global cortical 18F-fluorodeoxyglucose-PET hypometabolism (mean \u00b1 SD standardized uptake value ratio, 1.32 \u00b1 0.1 versus 1.39 \u00b1 0.19, d = 0.48) compared with dominantly inherited Alzheimer\u2019s disease. Fully adjusted comparisons demonstrated relatively higher Pittsburgh Compound B-PET standardized uptake value ratio in the medial occipital, thalami, basal ganglia and medial\/dorsal frontal regions in dominantly inherited Alzheimer\u2019s disease versus sporadic early-onset Alzheimer\u2019s disease. Sporadic early-onset Alzheimer\u2019s disease showed relatively greater 18F-fluorodeoxyglucose-PET hypometabolism in Alzheimer\u2019s disease signature temporoparietal regions and caudate nuclei, whereas dominantly inherited Alzheimer\u2019s disease showed relatively greater hypometabolism in frontal white matter and pericentral regions. Independent component analyses largely replicated these findings by highlighting common and unique Pittsburgh Compound B-PET and 18F-fluorodeoxyglucose-PET binding patterns. In summary, our findings suggest both common and distinct patterns of amyloid and glucose hypometabolism in sporadic and dominantly inherited early-onset Alzheimer\u2019s disease.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae159","type":"journal-article","created":{"date-parts":[[2024,5,3]],"date-time":"2024-05-03T17:11:52Z","timestamp":1714756312000},"source":"Crossref","is-referenced-by-count":10,"title":["Molecular neuroimaging in dominantly inherited versus sporadic early-onset Alzheimer\u2019s disease"],"prefix":"10.1093","volume":"6","author":[{"given":"Leonardo","family":"Iaccarino","sequence":"first","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2137-7750","authenticated-orcid":false,"given":"Jorge J","family":"Llibre-Guerra","sequence":"additional","affiliation":[{"name":"The Dominantly Inherited Alzheimer Network (DIAN) , St Louis, MO 63108 , USA"},{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"McDade","sequence":"additional","affiliation":[{"name":"The Dominantly Inherited Alzheimer Network (DIAN) , St Louis, MO 63108 , USA"},{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Edwards","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2109-2955","authenticated-orcid":false,"given":"Brian","family":"Gordon","sequence":"additional","affiliation":[{"name":"Department of Radiology, Washington University in St Louis , St Louis, MO 63110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammie","family":"Benzinger","sequence":"additional","affiliation":[{"name":"Department of Radiology, Washington University in St Louis , St Louis, MO 63110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Hassenstab","sequence":"additional","affiliation":[{"name":"The Dominantly Inherited Alzheimer Network (DIAN) , St Louis, MO 63108 , USA"},{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel H","family":"Kramer","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Washington University in St Louis , St Louis, MO 63110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce L","family":"Miller","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5991-3053","authenticated-orcid":false,"given":"Zachary","family":"Miller","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9820-5618","authenticated-orcid":false,"given":"John C","family":"Morris","sequence":"additional","affiliation":[{"name":"The Dominantly Inherited Alzheimer Network (DIAN) , St Louis, MO 63108 , USA"},{"name":"Department of Neurology, Washington University in St Louis , St Louis, MO 63108 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhi","family":"Mundada","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J","family":"Perrin","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology, Washington University in St Louis , St Louis, MO 63110 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard J","family":"Rosen","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4197-3039","authenticated-orcid":false,"given":"David","family":"Soleimani-Meigooni","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Strom","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , 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Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricio","family":"Chrem","sequence":"additional","affiliation":[{"name":"Department of Cognitive Neurology, Institute for Neurological Research Fleni , Buenos Aires 1428 , Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Vazquez","sequence":"additional","affiliation":[{"name":"Department of Cognitive Neurology, Institute for Neurological Research Fleni , Buenos Aires 1428 , Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B","family":"Berman","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Pittsburgh , Pittsburgh, PA 15213 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7792-1698","authenticated-orcid":false,"given":"Jasmeer","family":"Chhatwal","sequence":"additional","affiliation":[{"name":"Massachusetts General Hospital, Harvard Medical School , Boston, MA 02114 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3072-7940","authenticated-orcid":false,"given":"Colin L","family":"Masters","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Florey Institute, The University of Melbourne , Melbourne 3052 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R","family":"Farlow","sequence":"additional","affiliation":[{"name":"Neuroscience Center, Indiana University School of Medicine at Indianapolis , Indiana, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathias","family":"Jucker","sequence":"additional","affiliation":[{"name":"DZNE-German Center for Neurodegenerative Diseases , T\u00fcbingen 72076 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5092-4306","authenticated-orcid":false,"given":"Johannes","family":"Levin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Ludwig-Maximilians-University , Munich 80539 , Germany"},{"name":"German Center for Neurodegenerative Diseases , Munich 81377 , Germany"},{"name":"Munich Cluster for Systems Neurology (SyNergy) , Munich 81377 , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Salloway","sequence":"additional","affiliation":[{"name":"Memory & Aging Program, Butler Hospital, Brown University in Providence , RI 02906 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick C","family":"Fox","sequence":"additional","affiliation":[{"name":"Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory S","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology, Mayo Clinic Florida , Jacksonville, FL 33224 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Gorno-Tempini","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam L","family":"Boxer","sequence":"additional","affiliation":[{"name":"Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco , San Francisco, CA 94158 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2581-8100","authenticated-orcid":false,"given":"Renaud","family":"La 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USA"},{"name":"Department of Radiology and Biomedical Imaging, University of California , San Francisco, CA 94143 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,5,3]]},"reference":[{"issue":"1","key":"2024062807300112800_fcae159-B1","doi-asserted-by":"crossref","first-page":"15056","DOI":"10.1038\/nrdp.2015.56","article-title":"Alzheimer\u2019s disease","volume":"1","author":"Masters","year":"2015","journal-title":"Nat Rev Dis Primers"},{"issue":"4","key":"2024062807300112800_fcae159-B2","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1056\/NEJMra0909142","article-title":"Alzheimer\u2019s Disease","volume":"362","author":"Querfurth","year":"2010","journal-title":"N Engl J Med"},{"issue":"1","key":"2024062807300112800_fcae159-B3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/alzrt59","article-title":"Autosomal-dominant Alzheimer\u2019s disease: A review and proposal for the prevention of 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