The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI): Ten Years of Progress in Understanding Alzheimer's in Down Syndrome
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Down syndrome (DS) is a form of genetically determined Alzheimer's disease (AD). Understanding the natural history and biomarker specificities in this population can offer insights into AD pathogenesis and potential treatment targets. METHODS: The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) is a prospective longitudinal cohort of adults with DS that builds on a population-based health plan screening for neurological conditions (Figure 1). Conducted at the Alzheimer-Down Unit, the study aims to elucidate the natural history of AD in DS through multimodal biomarker investigations and support clinical trials. Participants undergo neurological and neuropsychological evaluations, blood and cerebrospinal fluid collection, structural 3T brain MRI, PET imaging ([18F]FDG-PET, amyloid-PET or tau-PET), as well as electroencephalography and video-polysomnography examinations. RESULTS: The DABNI cohort included 1,135 participants with a mean age of 42.82 years (SD = 11.56), 46.3% of whom are female. At baseline, 673 participants were asymptomatic or cognitively stable, 113 had prodromal AD, 239 had AD dementia, and 110 were uncertain due to non-AD conditions. The cohort's intellectual disability level distribution was 20% mild, 50% moderate, 20% severe, and 7% profound. Over 10,000 visits have demonstrated that AD progression is rare before age 40, but high thereafter (57.5% of individuals over 50 progress within 5 years). Neuropsychological assessments and biomarkers have shown strong diagnostic performance for symptomatic AD, and a prolonged and predictable preclinical phase similar to autosomal dominant AD. The initiative is actively participating in three clinical trials and has yielded a robust body of work, with nearly 100 publications. Table 1 shows the number of clinical visits and biomarker studies in the whole sample and stratified by clinical diagnosis. CONCLUSION: In 10 years, the DABNI study has become one of the largest multimodal initiatives on AD in adults with DS and has provided critical insights into disease progression and biomarkers, advancing interventions and clinical research.
Source: Alzheimer s & Dementia
Authors: Laura Videla, Bessy Benejam, Isabel Barroeta, Susana Fernandez, Javier Arranz, Íñigo Rodríguez‐Baz, José Enrique Arriola‐Infante, Lucía Maure‐Blesa, Laura Del Hoyo, Lídia Vaqué‐Alcázar, Mateus Rozalem Aranha, Alejandra O. Morcillo‐Nieto, Sara E Zsadanyi, Valle Camacho, Sandra Giménez, Olivia Belbin, Daniel Alcolea, Alexandre Bejanin, Sebastián Videla, Rafael Blesa, Alberto Lleó, Maria Carmona‐Iragui, Juan Fortea
Institutions: Universitat Autònoma de Barcelona, Instituto de Salud Carlos III, Hospital de Sant Pau, Biomedical Research Networking Center on Neurodegenerative Diseases, Institut de Recerca Sant Pau, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Universitat de Barcelona, Institut d'Investigació Biomédica de Bellvitge
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $4,200
OpenAlex ID: W7121154618
FWCI:
Cites:
Cited by:
Related to: