Open AccessCerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome
Author(s) -
Dekker Alain D.,
Fortea Juan,
Blesa Rafael,
De Deyn Peter P.
Publication year - 2017
Publication title -
alzheimer's and dementia: diagnosis, assessment and disease monitoring
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.497
H-Index - 37
ISSN - 2352-8729
DOI - 10.1016/j.dadm.2017.02.006
Subject(s) - biomarker , cerebrospinal fluid , dementia , disease , medicine , down syndrome , population , medical diagnosis , alzheimer's disease , oncology , pathology , pediatrics , bioinformatics , psychiatry , biology , biochemistry , environmental health
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.