Abstract

Management of Alzheimer's disease typically involves a diagnosis about halfway through the disease course and treatment with drugs that palliate cognitive and behavioural symptoms to an extent that is largely unsatisfactory to both patients and treating clinicians. To make things worse, clinical trials with innovative drugs—most of which aim to slow disease progression—are hampered by the need for expensive or invasive diagnostic technology such as PET or CSF analyses. The availability of easily accessible, timely, and cost-effective markers for early (or even preclinical) detection of Alzheimer's disease pathology and for use as surrogate endpoints for clinical trials would greatly facilitate drug development and fill the management gap between neurodegenerative diseases and other highly prevalent conditions such as cancer and vascular diseases, for which population screening and prevention are common in clinical practice. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort studyPlasma NfL concentrations have excellent diagnostic and prognostic performance for symptomatic Alzheimer's disease in Down syndrome. The longitudinal trajectory of plasma NfL supports its use as a theragnostic marker in clinical trials. Full-Text PDF Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional studyDue 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. Full-Text PDF

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