15 years of longitudinal genetic, clinical, cognitive, imaging, and biochemical measures in DIAN

TL;DR

The DIAN study tracks brain aging and Alzheimer's disease in families with a genetic risk over 15 years, providing a detailed dataset for research.

Contribution

The study presents a 15-year global dataset combining genetic, clinical, cognitive, imaging, and biochemical data from individuals at risk for Alzheimer's.

Findings

The dataset captures the progression from presymptomatic to symptomatic Alzheimer's in individuals with genetic mutations.

It includes comprehensive data from both mutation carriers and non-carriers, enabling detailed comparisons.

The study supports the development of preventive and therapeutic interventions for Alzheimer's disease.

Abstract

The Dominantly Inherited Alzheimer Network Observational Study (DIAN Obs) is a longitudinal, global cohort study investigating brain aging and autosomal dominant Alzheimer’s disease (ADAD), a rare monogenic form of Alzheimer’s disease (AD). Established in 2008 with support from the National Institute on Aging (NIA), DIAN Obs is designed to collect comprehensive and uniform data with the aim to characterize brain biology and clinical trajectory of individuals at risk for ADAD. Mutations in the amyloid protein precursor (APP), presenilin 1 (PSEN1), or presenilin 2 (PSEN2) genes cause ADAD with virtually full penetrance and a predictable age at symptomatic onset. Participants, both mutation carriers and non-carriers from affected families, undergo longitudinal clinical and cognitive assessments, neurologic and physical examinations, structural and functional neuro-imaging, and amyloid and tau positron emission tomography (PET). Biospecimens include cerebrospinal fluid, plasma, serum, and whole blood for biochemical, genetic and multi-omic analyses, with brain donation upon death. This dataset enables one of the most detailed longitudinal examinations of the human brain across the continuum from presymptomatic to symptomatic AD. The extensive DIAN Obs data and biospecimen repository provides a globally accessible resource to advance understanding of AD pathophysiology, aging, and the development of preventive and therapeutic interventions.

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