Cerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome

Alain D. Dekker, Juan Fortea, Rafael Blesa, Peter P. De Deyn*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    31 Citations (Scopus)
    154 Downloads (Pure)

    Abstract

    Down syndrome (DS), present in nearly six million people, is associated with an extremely high risk to develop Alzheimer's disease (AD). Amyloid-β and tau pathology are omnipresent from age 40 years onward, but clinical symptoms do not appear in all DS individuals. Dementia diagnostics is complex in this population, illustrating the great need for predictive biomarkers. Although blood biomarkers have not yet proven useful, cerebrospinal fluid (CSF) biomarkers (low amyloid-β42, high t-tau, and high p-tau) effectively contribute to AD diagnoses in the general population and are increasingly used in clinical practice. Surprisingly, CSF biomarkers have been barely evaluated in DS. Breaking the taboo on CSF analyses would finally allow for the elucidation of its utility in (differential) diagnoses and staging of disease severity. A sensitive and specific biomarker profile for AD in DS would be of paramount importance to daily care, adaptive caregiving, and specific therapeutic interventions.

    Original languageEnglish
    Pages (from-to)1-10
    Number of pages10
    JournalAlzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
    Volume8
    DOIs
    Publication statusPublished - 1-Jan-2017

    Keywords

    • Alzheimer's disease
    • Biomarkers
    • Cerebrospinal fluid
    • Dementia
    • Down syndrome

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