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Whether familial CBS\u2010AD is a distinct clinical entity with its own imaging signature remains unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four individuals with CBS from two families underwent detailed assessment. For two individuals, regional atrophy and hypoperfusion were compared to autopsy\u2010confirmed typical late\u2010onset AD and corticobasal degeneration, as well as genetically proven <jats:italic>PSEN1<\/jats:italic> cases with an amnestic presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One family harbored a novel mutation in <jats:italic>PSEN1<\/jats:italic>:p.Phe283Leu. MRI demonstrated severe parietal, perirolandic, and temporal atrophy, with relative sparing of frontal and ipsilateral hippocampal regions. Autopsy confirmed pure AD pathology. The other family harbored a known <jats:italic>PSEN1<\/jats:italic> mutation:p.Gly378Val.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This report confirms familial CBS\u2010AD as a distinct clinical entity, with a parietal\u2010perirolandic\u2010temporal atrophy signature. It illustrates the clinical heterogeneity that can occur despite a shared genetic cause and underscores the need for biomarkers such as amyloid imaging during life.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.jalz.2016.08.014","type":"journal-article","created":{"date-parts":[[2016,10,15]],"date-time":"2016-10-15T18:16:13Z","timestamp":1476555373000},"page":"520-530","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and <i>PSEN1<\/i> mutations"],"prefix":"10.1002","volume":"13","author":[{"given":"Benjamin","family":"Lam","sequence":"first","affiliation":[{"name":"L.C. 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