NPTX2 - Down - Belbin - Sant Pau Memory Unit

NPTX2: a new biomarker of neuronal dysfunction in adults with Down syndrome

Alzheimer’s disease is the major cause of death in adults with Down syndrome. Thus, there is an urgent need for objective biomarkers that can improve early diagnosis and monitor progression of Alzheimer’s disease in the Down syndrome population. Our recent study, entitled “Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome” has been published in Molecular Neurodegeneration.

What have we done in this study?

In this study, we compared cerebrospinal fluid levels of the protein, NPTX2, in adults with Down syndrome recruited from the DABNI cohort and late-onset Alzheimer’s disease patients and cognitively healthy controls recruited from the SPIN cohort. The objective of the study was to evaluate NPTX2 as a biomarker of AD-related neuronal circuit dysfunction and to explore its relationship to existing cerebrospinal fluid and neuroimaging biomarkers.

Main results

The main finding of this work was that, compared to controls, cerebrospinal fluid NPTX2 levels were significantly lower in adults with Down syndrome even prior to the onset of Alzheimer’s disease. This reduction was similar to that observed in patients with late-onset Alzheimer’s disease. Moreover, low NPTX2 levels in adults with Down syndrome were associated with increased signs of underlying Alzheimer’s disease (brain amyloidosis, cerebral atrophy and reduced glucose metabolism).

Down syndrome - Belbin - Sant Pau Memory Unit Barcelona

Relevance of the study

This study shows for the first time that NPTX2 could be a valuable cerebrospinal fluid biomarker of Alzheimer’s disease-related neuronal circuit dysfunction in adults with Down syndrome even prior to disease symptoms onset.

More information

Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome. Belbin, O, Xiao, MF, Xu, D et al. Mol Neurodegener 2020

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