Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study

Publication date: Available online 29 August 2018Source: The Lancet NeurologyAuthor(s): Juan Fortea, María Carmona-Iragui, Bessy Benejam, Susana Fernández, Laura Videla, Isabel Barroeta, Daniel Alcolea, Jordi Pegueroles, Laia Muñoz, Olivia Belbin, Mony J de Leon, Aleksandra Maleska Maceski, Christophe Hirtz, Jordi Clarimón, Sebastián Videla, Constance Delaby, Sylvain Lehmann, Rafael Blesa, Alberto LleóSummaryBackgroundDiagnosis of Alzheimer's disease in Down syndrome is challenging because of the absence of validated diagnostic biomarkers. We investigated the diagnostic performance of plasma and CSF biomarkers in this population.MethodsWe did a cross-sectional study of adults aged 18 years and older with Down syndrome enrolled in a population-based health plan in Catalonia, Spain. Every person with Down syndrome assessed in the health plan was eligible to enter the Down Alzheimer Barcelona Neuroimaging Initiative, and those with a plasma or CSF sample available were included in this study. Participants underwent neurological and neuropsychological examination and blood sampling, and a subset underwent a lumbar puncture. Adults with Down syndrome were classified into asymptomatic, prodromal Alzheimer's disease, or Alzheimer's disease dementia groups by investigators masked to biomarker data. Non-trisomic controls were a convenience sample of young (23–58 years) healthy people from the Sant Pau Initiative on Neurodegeneration. Amyloid-β (Aβ)1–40, Aβ1–42, total ta...
Source: The Lancet Neurology - Category: Neurology Source Type: research