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Characterization of white matter hyperintensities in Down syndrome
Morcillo-Nieto, A.O. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Zsadanyi, S.E. (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Arriola Infante, José Enrique (Institut de Recerca Sant Pau)
Carmona Iragui, Maria (Institut de Recerca Sant Pau)
Montal, Victor (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Pegueroles, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Aranha, Mateus (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Vaqué-Alcázar, Lídia (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Padilla, Concepción (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya))
Benejam, Bessy (Fundació Catalana Síndrome de Down)
Videla Toro, Laura (Institut de Recerca Sant Pau)
Barroeta, Isabel (Institut de Recerca Sant Pau)
Fernandez, S. (Fundació Catalana Síndrome de Down)
Altuna-Azkargorta, Miren (Fundación CITA-Alzhéimer Fundazioa (San Sebastián, País Basc))
Giménez, Sandra (Institut de Recerca Sant Pau)
González-Ortiz, Sofía (Hospital Clínic i Provincial de Barcelona)
Bargalló, Núria (Hospital Clínic i Provincial de Barcelona)
Ribas, Laia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Arranz Martínez, Javier (Institut de Recerca Sant Pau)
Torres Alcalá, Soraya (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Iulita, M. Florencia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas)
Belbin, Olivia (Institut de Recerca Sant Pau)
Camacho, Valle (Institut de Recerca Sant Pau)
Alcolea, Daniel (Institut de Recerca Sant Pau)
Lleó, Alberto (Institut de Recerca Sant Pau)
Fortea, Juan (Institut de Recerca Sant Pau)
Bejanin, Alexandre (Institut de Recerca Sant Pau)
Universitat Autònoma de Barcelona

Date: 2024
Abstract: INTRODUCTION: In Down syndrome (DS), white matter hyperintensities (WMHs) are highly prevalent, yet their topography and association with sociodemographic data and Alzheimer's disease (AD) biomarkers remain largely unexplored. METHODS: In 261 DS adults and 131 euploid controls, fluid-attenuated inversion recovery magnetic resonance imaging scans were segmented and WMHs were extracted in concentric white matter layers and lobar regions. We tested associations with AD clinical stages, sociodemographic data, cerebrospinal fluid (CSF) AD biomarkers, and gray matter (GM) volume. RESULTS: In DS, total WMHs arose at age 43 and showed stronger associations with age than in controls. WMH volume increased along the AD continuum, particularly in periventricular regions, and frontal, parietal, and occipital lobes. Associations were found with CSF biomarkers and temporo-parietal GM volumes. DISCUSSION: WMHs increase 10 years before AD symptom onset in DS and are closely linked with AD biomarkers and neurodegeneration. This suggests a direct connection to AD pathophysiology, independent of vascular risks. Highlights: White matter hyperintensities (WMHs) increased 10 years before Alzheimer's disease symptom onset in Down syndrome (DS). WMHs were strongly associated in DS with the neurofilament light chain biomarker. WMHs were more associated in DS with gray matter volume in parieto-temporal areas.
Grants: Instituto de Salud Carlos III PI18/00335
Instituto de Salud Carlos III PI18/00435
Instituto de Salud Carlos III PI20/01330
Instituto de Salud Carlos III PI20/01473
Instituto de Salud Carlos III PI22/00307
Rights: 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
Language: Anglès
Document: Article ; recerca ; Versió publicada
Subject: Alzheimer's disease ; Down syndrome ; Magnetic resonance imaging ; Neuroimaging ; Small vessel disease ; White matter hyperintensities
Published in: Alzheimer's & dementia, Vol. 20 Núm. 9 (september 2024) , p. 6527-6541, ISSN 1552-5279

DOI: 10.1002/alz.14146
PMID: 39087352


15 p, 7.7 MB

The record appears in these collections:
Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles

 Record created 2025-02-13, last modified 2026-03-05



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