Introduction—We aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]).
Methods—Neuroimaging features of CAA, APOE, and cerebrospinal fluid-Aβ40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68).
Results—CAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE-ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (p = .06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA.
Discussion—CAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid-Aβ40 levels are not a useful biomarker for CAA in AD.
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This work has been partially supported by research grants from the Carlos III national Institute of Health of Spain (PI13/01532 to RB; PI11/02526 and PI14/01126 to JF; PI08/0036 and PI12/00013 to RSV) jointly funded by Fondo Europeo de Desarrollo Regional (FEDER), Unión Europea, “Una manera de hacer Europa”; Fundació Marató TV3 (project 20141210 to JF); and CIBERNED (Program 1, Alzheimer Disease and other dementias to A.L). This work has also been partially supported by a grant from the Griffols Foundation, the Generalitat de Catalunya (2014SGR-0235), and by the Fundació Catalana de Síndrome de Down. Funding to support imaging studies in DS studies from UKY to EH/FAS/DP is from NIH NICHD R01HD064993. MCI is supported by Contrato de formación en Investigación post Formación Sanitaria Especializada Río Hortega (CM14/00029) from the Carlos III national Institute of Health of Spain. IIG is supported by i-PFIS grant (IF15/00060) from the Fondo de Investigaciones Sanitarias, Carlos III national Institute of Health of Spain.
Carmona-Iragui, María; Balasa, Mircea; Benejam, Bessy; Alcolea, Daniel; Fernández, Susana; Videla, Laura; Sala, Isabel; Sánchez-Saudinós, María Belén; Morenas-Rodriguez, Estrella; Ribosa-Nogué, Roser; Illán-Gala, Ignacio; Gonzalez-Ortiz, Sofía; Clarimón, Jordi; Schmitt, Frederick A.; Powell, David K.; Bosch, Beatriz; Lladó, Albert; Rafii, Michael S.; Head, Elizabeth; Molinuevo, José Luis; Blesa, Rafael; Videla, Sebastián; Lleó, Alberto; Sánchez-Valle, Raquel; and Fortea, Juan, "Cerebral Amyloid Angiopathy in Down Syndrome and Sporadic and Autosomal-Dominant Alzheimer's Disease" (2017). Sanders-Brown Center on Aging Faculty Publications. 117.