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Study of brain perfusion in adults with Down Syndrome along the Alzheimer's Disease continuum
Franquesa-Mullerat, Maria (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Morcillo-Nieto, Alejandra O. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Arriola Infante, José Enrique (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Zsadanyi, Sara E. (Institut de Recerca Sant Pau)
Vaqué-Alcázar, Lídia (Institut de Recerca Sant Pau)
Aranha, Mateus (Institut de Recerca Sant Pau)
Arranz Martínez, Javier (Institut de Recerca Sant Pau)
Rodríguez-Baz, Íñigo (Institut de Recerca Sant Pau)
Maure Blesa, Lucia (Institut de Recerca Sant Pau)
Videla Toro, Laura (Institut de Recerca Sant Pau)
Barroeta, Isabel (Institut de Recerca Sant Pau)
Hoyo Soriano, Laura del (Institut de Recerca Sant Pau)
Benejam, Bessy (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Fernandez, Susana (Institut de Recerca Sant Pau)
Hernandez, Aida Sanjuan (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Giménez, Sandra (Institut de Recerca Sant Pau)
Alcolea, Daniel (Institut de Recerca Sant Pau)
Lleó, Alberto (Institut de Recerca Sant Pau)
Carmona Iragui, Maria (Institut de Recerca Sant Pau)
Fortea, Juan (Institut de Recerca Sant Pau)
Bejanin, Alexandre (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona. Departament de medicina

Data: 2026
Resum: Down Syndrome (DS) represents a high-risk group for Alzheimer's disease (AD) due to chromosome 21 triplication, which drives amyloid precursor protein overproduction. While brain atrophy in DS has been widely studied, the underlying brain perfusion changes remain poorly understood. This study leverages MRI pseudo-continuous arterial spin labeling (pCASL) to explore early cerebral blood flow (CBF) alterations along the AD continuum in DS and compares these changes to the perfusion patterns seen in sporadic AD (sAD) We performed a cross-sectional analysis including 32 euploid cognitively unimpaired individuals (eCU, age= 56. 8yo, 68. 7% female), 37 adults with DS (age= 42. 64y; females= 37. 83%, 40. 5% symptomatic including n = 8 prodromal AD and n = 7 dementia) and 24 sAD patients (age 74. 2yo, 50% female, 16 MCI and 8 in dementia stage) from the SPIN and DABNI cohorts that underwent 3T-MRI. pCASL images were preprocessed using ASLprep. Analyses explored the effects of demographic variables (age, sex), clinical stages, and AD biomarkers (including cerebrospinal fluid [CSF] Aβ1-42/Aβ1-40 ratio, pTau-181, and hippocampal volume) on global and regional CBF. Age-related decreases in cerebral blood flow (CBF) were observed in prefrontal regions in eCU, parietal structures in DS, and temporal lobes in sAD (Figure 1 A-D). Females had higher perfusion than males in eCU and sAD, but not in DS (Figure 1 E-H). In DS, CBF was reduced in temporal-parietal regions in asymptomatic individuals, extending to frontal areas in symptomatic cases, resembling sAD patterns (Figure 2). Symptomatic DS showed significantly lower CBF in lateral parietal regions than asymptomatic DS. Temporoparietal CBF correlated negatively with CSF-pTau-181 and positively with CSF-Aβ1-42/Aβ1-40 ratio and hippocampal volume, with the strongest association seen with hippocampal volume (Figure 3) Brain perfusion is significantly altered in adults with DS along the AD continuum, with changes detectable even before clinical symptoms. Hypoperfusion primarily affects temporoparietal and frontal regions at the symptomatic stage, closely resembling patterns seen in sAD. Notably, perfusion in the parietal areas differentiates asymptomatic from symptomatic DS and correlates strongly with key AD biomarkers. These findings highlight the potential of pCASL to detect early functional changes in this high-risk population.
Ajuts: Instituto de Salud Carlos III PI18/00335
Instituto de Salud Carlos III PI18/00435
Instituto de Salud Carlos III PI22/00611
Instituto de Salud Carlos III PI20/01330
Instituto de Salud Carlos III PI20/01473
Instituto de Salud Carlos III PI22/00307
Instituto de Salud Carlos III PI20/00836
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès
Document: Article ; recerca ; Versió publicada
Matèria: Alzheimer's disease ; Down syndrome ; Arterial spin labeling ; Arterial transit time ; Brain perfusion ; Magnetic resonance imaging ; Neuroimaging
Publicat a: Alzheimer's & dementia, Vol. 21 (January 2026) , art. e106416, ISSN 1552-5279

DOI: 10.1002/alz70856_106416
PMID: 40968330


19 p, 9.3 MB

El registre apareix a les col·leccions:
Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut de Recerca Sant Pau
Articles > Articles de recerca
Articles > Articles publicats

 Registre creat el 2026-03-16, darrera modificació el 2026-03-24



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