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Though notable for its high degree of clinical heterogeneity, EOAD is defined by the same neuropathological hallmarks underlying the more common, late-onset form of AD. In this review, we describe the various clinical syndromes associated with EOAD, including the typical amnestic phenotype as well as atypical variants affecting visuospatial, language, executive, behavioral, and motor functions. We go on to highlight advances in fluid biomarker research and describe how molecular, structural, and functional neuroimaging can be used not only to improve EOAD diagnostic acumen but also enhance our understanding of fundamental pathobiological changes occurring years (and even decades) before the onset of symptoms. In addition, we discuss genetic variation underlying EOAD, including pathogenic variants responsible for the well-known mendelian forms of EOAD as well as variants that may increase risk for the much more common forms of EOAD that are either considered to be sporadic or lack a clear autosomal-dominant inheritance pattern. Intriguingly, specific pathogenic variants in\n                    <jats:italic>PRNP<\/jats:italic>\n                    and\n                    <jats:italic>MAPT<\/jats:italic>\n                    \u2014genes which are more commonly associated with other neurodegenerative diseases\u2014may provide unexpectedly important insights into the formation of AD tau pathology. Genetic analysis of the atypical clinical syndromes associated with EOAD will continue to be challenging given their rarity, but integration of fluid biomarker data, multimodal imaging, and various \u2018omics techniques and their application to the study of large, multicenter cohorts will enable future discoveries of fundamental mechanisms underlying the development of EOAD and its varied clinical presentations.\n                  <\/jats:p>","DOI":"10.1038\/s41380-022-01531-9","type":"journal-article","created":{"date-parts":[[2022,4,7]],"date-time":"2022-04-07T07:09:12Z","timestamp":1649315352000},"page":"2674-2688","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":149,"title":["Dissecting the clinical heterogeneity of early-onset Alzheimer\u2019s disease"],"prefix":"10.1038","volume":"27","author":[{"given":"Daniel W.","family":"Sirkis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke W.","family":"Bonham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor P.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2581-8100","authenticated-orcid":false,"given":"Renaud","family":"La Joie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7274-2634","authenticated-orcid":false,"given":"Jennifer S.","family":"Yokoyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,4,7]]},"reference":[{"key":"1531_CR1","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1002\/alz.12328","volume":"17","author":"Alzheimer\u2019s Association.","year":"2021","unstructured":"Alzheimer\u2019s Association. 2021 Alzheimer\u2019s disease facts and figures. 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