Cerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring

Peter P. De Deyn¹  Alain D. Dekker¹  Juan Fortea²  Rafael Blesa² 

[1] Department of Neurology and Alzheimer Research CenterUniversity of Groningen, University Medical Center GroningenGroningenThe Netherlands;Department of NeurologyHospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de BarcelonaBarcelonaSpain;

关键词: Alzheimer's disease;    Biomarkers;    Cerebrospinal fluid;    Dementia;    Down syndrome;   

DOI  :  10.1016/j.dadm.2017.02.006

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown