Alzheimer's disease in Down syndrome

The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. Indivi...

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Detalles Bibliográficos
Autores: Strydom, André, Coppus, Antonia, Blesa, Rafael|||0000-0003-4026-2884, Danek, Adrian|||0000-0001-8857-5383, Fortea, Juan|||0000-0002-1340-638X, Hardy, John|||0000-0002-3122-0423, Levin, Johannes|||0000-0001-5092-4306, Nuebling, Georg, Rebillat, Anne-Sophie|||0000-0003-1995-9177, Ritchie, Craig, van Duijn, Cornelia M.|||0000-0002-2374-9204, Zaman, Shahid, Zetterberg, Henrik|||0000-0003-3930-4354
Tipo de recurso: artículo
Fecha de publicación:2018
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:204202
Acceso en línea:https://ddd.uab.cat/record/204202
https://dx.doi.org/urn:doi:10.1016/j.trci.2018.10.006
Access Level:acceso abierto
Palabra clave:Alzheimer's disease
Down syndrome
Trisomy 21
Randomized controlled trials
Prevention
Dementia
APP
Amyloid
Biomarkers
Descripción
Sumario:The discovery that adults with Down syndrome (DS) have neuropathological features identical to individuals with sporadic Alzheimer's disease (AD) played a key role in the identification of the amyloid precursor protein gene on chromosome 21 and resulted in the amyloid cascade hypothesis. Individuals with DS have a lifetime risk for dementia in excess of 90%, and DS is now acknowledged to be a genetic form of AD similar to rare autosomal-dominant causes. Just as DS put the spotlight on amyloid precursor protein mutations, it is also likely to inform us of the impact of manipulating the amyloid pathway on treatment outcomes in AD. Ironically, however, individuals with DS are usually excluded from AD trials. This review will discuss primary and secondary prevention trials for AD in DS and the potential barriers and solutions to such trials and describe the Europe-wide Horizon21 Consortium to establish a DS-AD prevention clinical trials network.