biostudies-literatureFagan AMEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNIA NIH HHSJapan Agency for Medical Research and DevelopmentGerman Centre for Neurodegenerative DiseasesNIH615-626https://www.ebi.ac.uk/biostudies/studies/S-EPMC8496347biostudies-literatureUnknown20(8)<h4>Background</h4>Due to trisomy of chromosome 21 and the resultant extra copy of the amyloid precursor protein gene, nearly all adults with Down syndrome develop Alzheimer's disease pathology by the age of 40 years and are at high risk for dementia given their increased life expectancy compared with adults with Down syndrome in the past. We aimed to compare CSF biomarker patterns in Down syndrome with those of carriers of autosomal dominant Alzheimer's disease mutations to enhance our understanding of disease mechanisms in these two genetic groups at high risk for Alzheimer's disease.<h4>Methods</h4>We did a cross-sectional study using data from adults enrolled in the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study, a multisite longitudinal study of Alzheimer's disease in DThe Lancet. NeurologyComparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study.PMC8496347U24 AG021886P30 AG066462P01 AG012435U01 AG051412P30 AG066530K23 AG064029U01 AG051406UF1 AG032438U19 AG068054U19 AG032438P30 AG062715Chhatwal JPKlunk WESalloway SLai FSchupf NDay GSFagan AMRosas HDBateman RJAnces BMGraff-Radford NRNiimi YKrinsky-McHale SLott ITHanden BLMori HRingman JMLee JHMummery CJChristian BTDominantly Inherited Alzheimer NetworkAllegri RFBoerwinkle AHMartins RNMasters CLShoji MLevin JLi YSchofield PRHenson RLXiong CGoate ADoran EAlzheimer's Biomarker Consortium–Down SyndromeSilverman WJucker MfalseComparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study.<h4>Background</h4>Due to trisomy of chromosome 21 and the resultant extra copy of the amyloid precursor protein gene, nearly all adults with Down syndrome develop Alzheimer's disease pathology by the age of 40 years and are at high risk for dementia given their increased life expectancy compared with adults with Down syndrome in the past. We aimed to compare CSF biomarker patterns in Down syndrome with those of carriers of autosomal dominant Alzheimer's disease mutations to enhance our understanding of disease mechanisms in these two genetic groups at high risk for Alzheimer's disease.<h4>Methods</h4>We did a cross-sectional study using data from adults enrolled in the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study, a multisite longitudinal study of Alzheimer's disease in D2021-01-01T00:00:00Z2021 Aug2026-05-08T01:49:40.977Z2025-04-19T22:48:11.359ZS-EPMC84963473430278610.1016/s1474-4422(21)00139-310.1016/S1474-4422(21)00139-3