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唐氏综合征巴塞罗那神经影像倡议组织(DABNI)及其对理解唐氏综合征中的阿尔茨海默病的贡献:十年探索成果

The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) and its contributions to understanding Alzheimer's disease in Down syndrome: A decade of discovery.

作者信息

Videla Laura, Benejam Bessy, Barroeta Isabel, Fernandez Susana, Altuna Miren, Arranz Javier, Rodríguez-Baz Íñigo, Arriola-Infante José Enrique, Maure-Blesa Lucía, Del Hoyo Soriano Laura, Illán-Gala Ignacio, Estellés Teresa, Sanjuan Aida, Vaqué-Alcázar Lídia, Aranha Mateus Rozalem, Morcillo-Nieto Alejandra O, Zsadanyi Sarah Erzsebet, Franquesa-Mullerat Maria, Valldeneu Sílvia, Sánchez-Saudinós María Belén, Padilla Concepción, Carreras Mireia, Lorente Oriol, Valle-Tamayo Natalia, Sánchez-Aced Érika, Dols-Icardo Oriol, Sirisi Sònia, Muñoz Laia, Torres Soraya, Bounasr El Bennadi Shaima El, Sánchez Oriol, Garzón Diana, Ribas Laia, Elbachiri Sumia, Mota Cecilia, Tondo Mireia, Camacho Valle, Giménez Sandra, Delaby Constance, Belbin Olivia, Iulita María Florencia, Montal Víctor, Pegueroles Jordi, Vilaplana Eduard, Clarimón Jordi, González-Ortiz Sofía, Molina-Porcel Laura, Aldecoa Iban, Alcolea Daniel, Bejanin Alexandre, Videla Sebastià, Blesa Rafael, Lleó Alberto, Carmona-Iragui María, Fortea Juan

机构信息

Sant Pau Memory Unit, Department of Neurology, Institut d'Investigacions Biomèdiques Sant Pau Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Barcelona, Spain.

出版信息

Alzheimers Dement. 2025 Jun;21(6):e70259. doi: 10.1002/alz.70259.

Abstract

Down syndrome (DS) is a genetic form of Alzheimer's disease (AD) that offers crucial insights into AD pathogenesis. The Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) is a population-based multimodal biomarker cohort studying AD's natural history and clinical trials in DS. DABNI included 1135 participants (mean age 42.82, 46.3% female). At baseline, 673 participants were cognitively stable, 113 had prodromal AD, 239 had AD dementia, and 110 were uncertain due to non-AD conditions. Over 10 years, > 10000 clinical visits were conducted; follow-up showed that progression to symptomatic AD before age 40 was rare, but rates increased after age 50 (> 50% within 5 years). Neuropsychological and biomarker assessments demonstrated excellent diagnostic performance and a predictable sequence of changes, similar to autosomal dominant AD. DABNI participates in AD clinical trials and produced approximately 100 publications. The 10-year DABNI study provided critical insights into DS-associated AD (DSAD) and serves as a key platform for DS clinical trials. HIGHLIGHTS: Down Alzheimer Barcelona Neuroimaging Initiative (DABNI) is a population-based multimodal cohort studying Alzheimer's disease in Down syndrome. Over 10 years, 1135 participants contributed to more than 10000 clinical visits and extensive biomarker studies. DABNI findings have transformed the understanding of Alzheimer's disease in Down syndrome, reinforcing its classification as a genetic form of the disease. The cohort integrates clinical care and research, enhancing early detection and patient management. DABNI supports clinical trials and has produced over 100 publications advancing Down syndrome-related Alzheimer's research.

摘要

唐氏综合征(DS)是阿尔茨海默病(AD)的一种遗传形式,为AD发病机制提供了重要见解。巴塞罗那唐氏综合征阿尔茨海默病神经影像学倡议(DABNI)是一个基于人群的多模态生物标志物队列,研究DS中AD的自然史和临床试验。DABNI纳入了1135名参与者(平均年龄42.82岁,46.3%为女性)。基线时,673名参与者认知稳定,113名有前驱AD,239名有AD痴呆,110名因非AD疾病情况不确定。在10年期间,进行了超过10000次临床访视;随访显示,40岁前进展为有症状AD的情况很少见,但50岁后发生率增加(5年内超过50%)。神经心理学和生物标志物评估显示出优异的诊断性能以及可预测的变化顺序,类似于常染色体显性AD。DABNI参与AD临床试验并发表了约100篇出版物。为期10年的DABNI研究为唐氏综合征相关AD(DSAD)提供了关键见解,并成为DS临床试验的关键平台。要点:巴塞罗那唐氏综合征阿尔茨海默病神经影像学倡议(DABNI)是一个基于人群的多模态队列,研究唐氏综合征中的阿尔茨海默病。在10年期间,1135名参与者进行了超过10000次临床访视和广泛的生物标志物研究。DABNI的研究结果改变了对唐氏综合征中阿尔茨海默病的认识,强化了其作为该疾病遗传形式的分类。该队列整合了临床护理和研究,加强了早期检测和患者管理。DABNI支持临床试验,并发表了100多篇推进唐氏综合征相关阿尔茨海默病研究的出版物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e8c/12173842/44bf7fe77b37/ALZ-21-e70259-g001.jpg

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