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1. Down Syndrome Biobank Consortium: A perspective

Author

Aldecoa, Iban, Barroeta, Isabel, Carroll, Steven L, Fortea, Juan, Gilmore, Anah, Ginsberg, Stephen D, Guzman, Samuel J, Hamlett, Eric D, Head, Elizabeth, Perez, Sylvia E, Potter, Huntington, Molina‐Porcel, Laura, Raha‐Chowdhury, Ruma, Wisniewski, Thomas, Yong, William H, Zaman, Shahid, Ghosh, Sujay, Mufson, Elliott J, and Granholm, Ann‐Charlotte

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Aging, Acquired Cognitive Impairment, Intellectual and Developmental Disabilities (IDD), Alzheimer's Disease, Genetics, Dementia, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurodegenerative, Down Syndrome, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Congenital, Neurological, Good Health and Well Being, Humans, Biological Specimen Banks, Alzheimer Disease, Brain, Europe, Alzheimer's disease, biobanking, brain banking, Down syndrome, repository, research, Geriatrics, Clinical sciences, Biological psychology
Abstract

Individuals with Down syndrome (DS) have a partial or complete trisomy of chromosome 21, resulting in an increased risk for early-onset Alzheimer's disease (AD)-type dementia by early midlife. Despite ongoing clinical trials to treat late-onset AD, individuals with DS are often excluded. Furthermore, timely diagnosis or management is often not available. Of the genetic causes of AD, people with DS represent the largest cohort. Currently, there is a knowledge gap regarding the underlying neurobiological mechanisms of DS-related AD (DS-AD), partly due to limited access to well-characterized brain tissue and biomaterials for research. To address this challenge, we created an international consortium of brain banks focused on collecting and disseminating brain tissue from persons with DS throughout their lifespan, named the Down Syndrome Biobank Consortium (DSBC) consisting of 11 biobanking sites located in Europe, India, and the USA. This perspective describes the DSBC harmonized protocols and tissue dissemination goals.

Published
2024

3. Correction: Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia

Author

Zhu, Nuole, Santos-Santos, Miguel, Illán-Gala, Ignacio, Montal, Victor, Estellés, Teresa, Barroeta, Isabel, Altuna, Miren, Arranz, Javier, Muñoz, Laia, Belbin, Olivia, Sala, Isabel, Sánchez-Saudinós, Maria Belén, Subirana, Andrea, Videla, Laura, Pegueroles, Jordi, Blesa, Rafael, Clarimón, Jordi, Carmona-Iragui, Maria, Fortea, Juan, Lleó, Alberto, and Alcolea, Daniel

Published
2023
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4. Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study

Author

Carmona-Iragui, Maria, Alcolea, Daniel, Barroeta, Isabel, Videla, Laura, Muñoz, Laia, Van Pelt, Kathyrn L, Schmitt, Frederick A, Lightner, Donita D, Koehl, Lisa M, Jicha, Gregory, Sacco, Silvia, Mircher, Clotilde, Pape, Sarah E, Hithersay, Rosalyn, Clare, Isabel CH, Holland, Anthony J, Nübling, Georg, Levin, Johannes, Zaman, Shahid H, Strydom, Andre, Rebillat, Anne-Sophie, Head, Elizabeth, Blesa, Rafael, Lleó, Alberto, and Fortea, Juan

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Prevention, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Neurodegenerative, Dementia, Clinical Research, Alzheimer's Disease, Brain Disorders, Aging, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Neurological, Adult, Age Factors, Aged, Alzheimer Disease, Apolipoprotein E4, Cohort Studies, Disease Progression, Down Syndrome, Female, Humans, Intellectual Disability, Intermediate Filaments, Longitudinal Studies, Male, Middle Aged, Neurofilament Proteins, Predictive Value of Tests, Prognosis, ROC Curve, Sex Factors, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundAdults with Down syndrome are at an ultra-high risk of Alzheimer's disease, but diagnosis of Alzheimer's disease in this population is challenging. We aimed to validate the clinical utility of plasma neurofilament light chain (NfL) for the diagnosis of symptomatic Alzheimer's disease in Down syndrome, assess its prognostic value, and establish longitudinal changes in adults with Down syndrome.MethodsWe did a multicentre cohort study, including adults with Down syndrome (≥18 years), recruited from six hospitals and university medical centres in France, Germany, Spain, the UK, and the USA, who had been assessed, followed up, and provided at least two plasma samples. Participants were classified by local clinicians, who were masked to biomarker data, as asymptomatic (ie, no clinical suspicion of Alzheimer's disease), prodromal Alzheimer's disease, or Alzheimer's disease dementia. We classified individuals who progressed along the Alzheimer's disease continuum during follow-up as progressors. Plasma samples were analysed retrospectively; NfL concentrations were measured centrally using commercial kits for biomarker detection. We used ANOVA to evaluate differences in baseline NfL concentrations, Cox regression to study their prognostic value, and linear mixed models to estimate longitudinal changes. To account for potential confounders, we included age, sex, and intellectual disability as covariates in the analyses.FindingsBetween Aug 2, 2010, and July 16, 2019, we analysed 608 samples from 236 people with Down syndrome: 165 (70%) were asymptomatic, 32 (14%) had prodromal Alzheimer's disease, and 29 (12%) had Alzheimer's disease dementia; ten [4%] participants were excluded because their classification was uncertain. Mean follow-up was 3·6 years (SD 1·6, range 0·6-9·2). Baseline plasma NfL concentrations showed an area under the receiver operating characteristic curve of 0·83 (95% CI 0·76-0·91) in the prodromal group and 0·94 (0·90-0·97) in the dementia group for differentiating from participants who were asymptomatic. An increase of 1 pg/mL in baseline NfL concentrations was associated with a 1·04-fold risk of clinical progression (95% CI 1·01-1·07; p=0·0034). Plasma NfL concentrations showed an annual increase of 3·0% (95% CI 0·4-5·8) per year in the asymptomatic non-progressors group, 11·5% (4·9-18·5) per year in the asymptomatic progressors group, and 16·0% (8·4-24·0) per year in the prodromal Alzheimer's disease progressors group. In participants with Alzheimer's disease dementia, NfL concentrations increased by a mean of 24·3% (15·3-34·1).InterpretationPlasma NfL concentrations have excellent diagnostic and prognostic performance for symptomatic Alzheimer's disease in Down syndrome. The longitudinal trajectory of plasma NfL supports its use as a theragnostic marker in clinical trials.FundingAC Immune, La Caixa Foundation, Instituto de Salud Carlos III, National Institute on Aging, Wellcome Trust, Jérôme Lejeune Foundation, Medical Research Council, National Institute for Health Research, EU Joint Programme-Neurodegenerative Disease Research, Alzheimer's society, Deutsche Forschungsgemeinschaft, Stiftung für die Erforschung von Verhaltens und Umwelteinflüssen auf die menschliche Gesundheit, and NHS National Institute of Health Research Applied Research Collaborations East of England, UK.

Published
2021

5. Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease

Author

Benejam, Bessy, Aranha, Mateus Rozalem, Videla, Laura, Padilla, Concepción, Valldeneu, Silvia, Fernández, Susana, Altuna, Miren, Carmona-Iragui, Maria, Barroeta, Isabel, Iulita, Maria Florencia, Montal, Víctor, Pegueroles, Jordi, Bejanin, Alexandre, Giménez, Sandra, González-Ortiz, Sofía, Videla, Sebastián, Bartrés-Faz, David, Alcolea, Daniel, Blesa, Rafael, Lleó, Alberto, and Fortea, Juan

Published
2022
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6. The Aβ1–42/Aβ1–40 ratio in CSF is more strongly associated to tau markers and clinical progression than Aβ1–42 alone

Author

Delaby, Constance, Estellés, Teresa, Zhu, Nuole, Arranz, Javier, Barroeta, Isabel, Carmona-Iragui, María, Illán-Gala, Ignacio, Santos-Santos, Miguel Ángel, Altuna, Miren, Sala, Isabel, Sánchez-Saudinós, M. Belén, Videla, Laura, Valldeneu, Sílvia, Subirana, Andrea, Tondo, Mireia, Blanco-Vaca, Francisco, Lehmann, Sylvain, Belbin, Olivia, Blesa, Rafael, Fortea, Juan, Lleó, Alberto, and Alcolea, Daniel

Published
2022
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7. Characterization of white matter hyperintensities in Down syndrome.

Author

Morcillo‐Nieto, Alejandra O., Zsadanyi, Sara E., Arriola‐Infante, Jose E., Carmona‐Iragui, Maria, Montal, Victor, Pegueroles, Jordi, Aranha, Mateus Rozalem, Vaqué‐Alcázar, Lídia, Padilla, Concepción, Benejam, Bessy, Videla, Laura, Barroeta, Isabel, Fernandez, Susana, Altuna, Miren, Giménez, Sandra, González‐Ortiz, Sofía, Bargalló, Núria, Ribas, Laia, Arranz, Javier, and Torres, Soraya

Published
2024
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8. Hypothalamic inflammation improves through bariatric surgery and hypothalamic volume predicts short-term weight loss response in adults with or without type 2 diabetes.

Author

Pané, Adriana, primary, Videla, Laura, primary, Calvet, Àngels, primary, Viaplana, Judith, primary, Vaqué-Alcázar, Lidia, primary, Ibarzabal, Ainitze, primary, Rozalem-Aranha, Mateus, primary, Pegueroles, Jordi, primary, Moize, Violeta, primary, Vidal, Josep, primary, Ortega, Emilio, primary, Barroeta, Isabel, primary, Camacho-Marti, Valle, primary, Chiva-Blanch, Gemma, primary, Fortea, Juan, primary, and Jiménez, Amanda, primary

Published
2024
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9. Cortical microinfarcts in adults with Down syndrome assessed with 3T-MRI

Author

Projectafdeling VCI, Neurologen, Brain, Circulatory Health, Aranha, Mateus Rozalem, Montal, Victor, van den Brink, Hilde, Pegueroles, Jordi, Carmona-Iragui, Maria, Videla, Laura, Maure Blesa, Lucia, Benejam, Bessy, Arranz, Javier, Valldeneu, Sílvia, Barroeta, Isabel, Fernández, Susana, Ribas, Laia, Alcolea, Daniel, González-Ortiz, Sofía, Bargalló, Núria, Biessels, Geert Jan, Blesa, Rafael, Lleó, Alberto, Coutinho, Artur Martins, Leite, Cláudia Costa, Bejanin, Alexandre, Fortea, Juan, Projectafdeling VCI, Neurologen, Brain, Circulatory Health, Aranha, Mateus Rozalem, Montal, Victor, van den Brink, Hilde, Pegueroles, Jordi, Carmona-Iragui, Maria, Videla, Laura, Maure Blesa, Lucia, Benejam, Bessy, Arranz, Javier, Valldeneu, Sílvia, Barroeta, Isabel, Fernández, Susana, Ribas, Laia, Alcolea, Daniel, González-Ortiz, Sofía, Bargalló, Núria, Biessels, Geert Jan, Blesa, Rafael, Lleó, Alberto, Coutinho, Artur Martins, Leite, Cláudia Costa, Bejanin, Alexandre, and Fortea, Juan

Published
2024

10. Hypothalamic Inflammation Improves Through Bariatric Surgery, and Hypothalamic Volume Predicts Short-Term Weight Loss Response in Adults With or Without Type 2 Diabetes.

Author

Pané, Adriana, Videla, Laura, Calvet, Àngels, Viaplana, Judith, Vaqué-Alcázar, Lídia, Ibarzabal, Ainitze, Rozalem-Aranha, Mateus, Pegueroles, Jordi, Moize, Violeta, Vidal, Josep, Ortega, Emilio, Barroeta, Isabel, Camacho, Valle, Chiva-Blanch, Gemma, Fortea, Juan, and Jiménez, Amanda

Subjects
TYPE 2 diabetes, WEIGHT loss, GASTRIC bypass, BARIATRIC surgery, CEREBROSPINAL fluid, EXTRACELLULAR vesicles
Abstract

OBJECTIVE Preclinical research implicates hypothalamic inflammation (HI) in obesity and type 2 diabetes pathophysiology. However, their pathophysiological relevance and potential reversibility need to be better defined. We sought to evaluate the effect of bariatric surgery (BS) on radiological biomarkers of HI and the association between the severity of such radiological alterations and post-BS weight loss (WL) trajectories. The utility of cerebrospinal fluid large extracellular vesicles (CSF-lEVs) enriched for microglial and astrocyte markers in studying HI was also explored. RESEARCH DESIGN AND METHODS We included 72 individuals with obesity (20 with and 52 without type 2 diabetes) and 24 control individuals. Participants underwent lumbar puncture and 3-T MRI at baseline and 1-year post-BS. We assessed hypothalamic mean diffusivity (MD) (higher values indicate lesser microstructural integrity) and the volume of the whole and main hypothalamic subregions. CSF-lEVs enriched for glial and astrocyte markers were determined by flow cytometry. RESULTS Compared with control group, the obesity and type 2 diabetes groups showed a larger volume and higher MD in the hypothalamic tubular inferior region, the area encompassing the arcuate nucleus. These radiological alterations were positively associated with baseline anthropometric and metabolic measures and improved post-BS. A larger baseline tubular inferior hypothalamic volume was independently related to lesser WL 1 and 2 years after BS. CSF-lEVs did not differ among groups and were unrelated to WL trajectories. CONCLUSIONS These findings suggest HI improvement after BS and may support a role for HI in modulating the WL response to these interventions. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Diagnostic performance of plasma pTau217, pTau181, Aβ1-42 and Aβ1-40 in the LUMIPULSE automated platform for the detection of Alzheimer disease.

Author

Arranz, Javier, Zhu, Nuole, Rubio-Guerra, Sara, Rodríguez-Baz, Íñigo, Ferrer, Rosa, Carmona-Iragui, María, Barroeta, Isabel, Illán-Gala, Ignacio, Santos-Santos, Miguel, Fortea, Juan, Lleó, Alberto, Tondo, Mireia, and Alcolea, Daniel

Subjects
ALZHEIMER'S disease, MILD cognitive impairment, CARDIAC amyloidosis, CHRONIC kidney failure, RECEIVER operating characteristic curves, LUMBAR puncture
Abstract

Background: Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance in clinical practice is unknown. Methods: We analyzed plasma samples from 290 consecutive participants that underwent lumbar puncture in routine clinical practice in a specialized memory clinic (66 cognitively unimpaired, 130 participants with mild cognitive impairment, and 94 with dementia). Participants were classified as amyloid positive (A +) or negative (A-) according to CSF Aβ1–42/Aβ1–40 ratio. Plasma pTau217, pTau181, Aβ1–42 and Aβ1–40 were measured in the fully-automated LUMIPULSE platform. We used linear regression to compare plasma biomarkers concentrations between A + and A- groups, evaluated Spearman's correlation between plasma and CSF and performed ROC analyses to assess their diagnostic accuracy to detect brain amyloidosis as determined by CSF Aβ1–42/Aβ1–40 ratio. We analyzed the concordance of pTau217 with CSF amyloidosis. Results: Plasma pTau217 and pTau181 concentration were higher in A + than A- while the plasma Aβ1–42/Aβ1–40 ratio was lower in A + compared to A-. pTau181 and the Aβ1–42/Aβ1–40 ratio showed moderate correlation between plasma and CSF (Rho = 0.66 and 0.69, respectively). The areas under the ROC curve to discriminate A + from A- participants were 0.94 (95% CI 0.92–0.97) for pTau217, and 0.88 (95% CI 0.84–0.92) for both pTau181 and Aβ1–42/Aβ1–40. Chronic kidney disease (CKD) was related to increased plasma biomarker concentrations, but ratios were less affected. Plasma pTau217 had the highest fold change (× 3.2) and showed high predictive capability in discriminating A + from A-, having 4–7% misclassification rate. The global accuracy of plasma pTau217 using a two-threshold approach was robust in symptomatic groups, exceeding 90%. Conclusion: The evaluation of blood biomarkers on an automated platform exhibited high diagnostic accuracy for AD pathophysiology, and pTau217 showed excellent diagnostic accuracy to identify participants with AD in a consecutive sample representing the routine clinical practice in a specialized memory unit. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Cortical microinfarcts in adults with Down syndrome assessed with 3T‐MRI.

Author

Aranha, Mateus Rozalem, Montal, Victor, van den Brink, Hilde, Pegueroles, Jordi, Carmona‐Iragui, Maria, Videla, Laura, Maure Blesa, Lucia, Benejam, Bessy, Arranz, Javier, Valldeneu, Sílvia, Barroeta, Isabel, Fernández, Susana, Ribas, Laia, Alcolea, Daniel, González‐Ortiz, Sofía, Bargalló, Núria, Biessels, Geert Jan, Blesa, Rafael, Lleó, Alberto, and Coutinho, Artur Martins

Abstract

BACKGROUND: Cortical microinfarcts (CMI) were attributed to cerebrovascular disease and cerebral amyloid angiopathy (CAA). CAA is frequent in Down syndrome (DS) while hypertension is rare, yet no studies have assessed CMI in DS. METHODS: We included 195 adults with DS, 63 with symptomatic sporadic Alzheimer's disease (AD), and 106 controls with 3T magnetic resonance imaging. We assessed CMI prevalence in each group and CMI association with age, AD clinical continuum, vascular risk factors, vascular neuroimaging findings, amyloid/tau/neurodegeneration biomarkers, and cognition in DS. RESULTS: CMI prevalence was 11.8% in DS, 4.7% in controls, and 17.5% in sporadic AD. In DS, CMI increased in prevalence with age and the AD clinical continuum, was clustered in the parietal lobes, and was associated with lacunes and cortico‐subcortical infarcts, but not hemorrhagic lesions. DISCUSSION: In DS, CMI are posteriorly distributed and related to ischemic but not hemorrhagic findings suggesting they might be associated with a specific ischemic CAA phenotype. Highlights: This is the first study to assess cortical microinfarcts (assessed with 3T magnetic resonance imaging) in adults with Down syndrome (DS).We studied the prevalence of cortical microinfarcts in DS and its relationship with age, the Alzheimer's disease (AD) clinical continuum, vascular risk factors, vascular neuroimaging findings, amyloid/tau/neurodegeneration biomarkers, and cognition.The prevalence of cortical microinfarcts was 11.8% in DS and increased with age and along the AD clinical continuum. Cortical microinfarcts were clustered in the parietal lobes, and were associated with lacunes and cortico‐subcortical infarcts, but not hemorrhagic lesions.In DS, cortical microinfarcts are posteriorly distributed and related to ischemic but not hemorrhagic findings suggesting they might be associated with a specific ischemic phenotype of cerebral amyloid angiopathy. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Diagnostic performance of plasma pTau 217 , pTau 181 , Aβ 1-42 and Aβ 1-40 in the LUMIPULSE automated platform for the detection of Alzheimer disease

Author

Arranz, Javier, primary, Zhu, Nuole, additional, Rubio-Guerra, Sara, additional, Rodríguez-Baz, Íñigo, additional, Ferrer, Rosa, additional, Carmona-Iragui, María, additional, Barroeta, Isabel, additional, Illán-Gala, Ignacio, additional, Santos-Santos, Miguel, additional, Fortea, Juan, additional, Lleó, Alberto, additional, Tondo, Mireia, additional, and Alcolea, Daniel, additional

Published
2023
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14. Sequential grey matter atrophy related to Alzheimer’s disease in adults with Down’s syndrome

Author

Bejanin, Alexandre, primary, Morcillo‐Nieto, Alejandra O., additional, Zsadanyi, Sara E., additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Carmona‐Iragui, Maria, additional, Aranha, Mateus Rozalem, additional, Vaqué‐Alcázar, Lídia, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernandez, Susana, additional, Giménez, Sandra, additional, González‐Ortiz, Sofía, additional, Bargalló, Núria, additional, Ribas, Laia, additional, Arranz, Javier, additional, Rodríguez‐Baz, Íñigo, additional, Belbin, Olivia, additional, Alcolea, Daniel, additional, Blesa, Rafael, additional, Lleo, Alberto, additional, and Fortea, Juan, additional

Published
2023
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15. Adults with Down syndrome show quantitative sleep electroencephalogram patterns similar to those observed in patients with Alzheimer’s disease

Author

Giménez, Sandra, primary, Clos, Susana, additional, Serna, Leidy Y., additional, Carmona‐Iragui, Maria, additional, Benejam, Bessy, additional, Rojas, Monica, additional, Bejanin, Alexandre, additional, Arranz, Javier, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Aranha, Mateus Rozalem, additional, Morcillo‐Nieto, Alejandra O., additional, Zsadanyi, Sara E., additional, Mañanas, Miguel Angel, additional, Lleo, Alberto, additional, Romero, Sergio, additional, and Fortea, Juan, additional

Published
2023
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16. [18F]PI2620 tau deposition increases along the Alzheimer’s disease continuum in Down Syndrome and in presence of amyloid

Author

Pegueroles, Jordi, primary, Camacho, Valle, additional, Montal, Victor, additional, Bejanin, Alexandre, additional, Videla, Laura, additional, Aranha, Mateus Rozalem, additional, Benejam, Bessy, additional, Morcillo‐Nieto, Alejandra O., additional, Zsadanyi, Sara E., additional, Barroeta, Isabel, additional, Carmona‐Iragui, Maria, additional, Lleo, Alberto, additional, Flotats, Albert, additional, and Fortea, Juan, additional

Published
2023
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17. SEX EFFECTS ON THE QUALITY OF SLEEP IN DOWN SYNDROME

Author

Giménez, Sandra, primary, Clos, Susana, additional, Bejanin, Alexandre, additional, Carmona‐Iragui, Maria, additional, Arranz, Javier, additional, Benejam, Bessy, additional, Videla, Laura, additional, Fernandez, Susana, additional, Rodríguez‐Baz, Íñigo, additional, Barroeta, Isabel, additional, Lleo, Alberto, additional, and Fortea, Juan, additional

Published
2023
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18. Cortical microinfarcts along the Alzheimer’s disease continuum in adults with Down syndrome ‐ an update

Author

Aranha, Mateus Rozalem, primary, van den Brink, Hilde, additional, Bejanin, Alexandre, additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Carmona‐Iragui, Maria, additional, Videla, Laura, additional, Benejam, Bessy, additional, Valldeneu, Sílvia, additional, Barroeta, Isabel, additional, Altuna, Miren, additional, Fernandez, Susana, additional, Garzón, Diana, additional, Padilla, Concepcion, additional, Iulita, M. Florencia, additional, Alcolea, Daniel, additional, González‐Ortiz, Sofía, additional, Blesa, Rafael, additional, Sánchez‐Valle, Raquel, additional, Biessels, Geert Jan, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2023
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19. Cognitive reserve in Down syndrome: a new opportunity to understand resilience in Alzheimer’s disease

Author

Vaqué‐Alcázar, Lídia, primary, Carmona‐Iragui, Maria, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Benejam, Bessy, additional, Rodríguez‐Baz, Íñigo, additional, Arranz, Javier, additional, Pegueroles, Jordi, additional, Lleó, Alberto, additional, Fortea, Juan, additional, and Bartrés‐Faz, David, additional

Published
2023
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20. Cerebral microbleeds in Down syndrome: association with demographic, genetic, fluid and imaging biomarkers of Alzheimer’s disease

Author

Zsadanyi, Sara E., primary, Morcillo‐Nieto, Alejandra O., additional, Aranha, Mateus Rozalem, additional, Aragón, Irina, additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Vaqué‐Alcázar, Lídia, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernandez, Susana, additional, Giménez, Sandra, additional, González‐Ortiz, Sofía, additional, Bargalló, Núria, additional, Ribas, Laia, additional, Arranz, Javier, additional, Rodríguez‐Baz, Íñigo, additional, Belbin, Olivia, additional, Alcolea, Daniel, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, Fortea, Juan, additional, Carmona‐Iragui, Maria, additional, and Bejanin, Alexandre, additional

Published
2023
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21. Biofluid markers of Alzheimer’s disease‐associated CNS inflammation in adults with Down syndrome

Author

Belbin, Olivia, primary, Iulita, Maria Florencia, additional, Serrano‐Requena, Sara, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Benejam, Bessy, additional, Altuna, Miren, additional, Tamayo, Natalia Valle, additional, Cervantes‐Gonz, Alba, additional, Gil, Laia Lidón, additional, Dols‐Icardo, Oriol, additional, Bejanin, Alexandre, additional, Alcolea, Daniel, additional, Lleó, Alberto, additional, Fortea, Juan, additional, and Carmona‐Iragui, Maria, additional

Published
2023
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22. Longitudinal white matter hyperintensities in Down’s syndrome

Author

Morcillo‐Nieto, Alejandra O., primary, Zsadanyi, Sara E., additional, Montal, Victor, additional, Aranha, Mateus Rozalem, additional, Pegueroles, Jordi, additional, Vaqué‐Alcázar, Lídia, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernandez, Susana, additional, Giménez, Sandra, additional, González‐Ortiz, Sofía, additional, Bargalló, Núria, additional, Ribas, Laia, additional, Arranz, Javier, additional, Belbin, Olivia, additional, Alcolea, Daniel, additional, Blesa, Rafael, additional, Carmona‐Iragui, Maria, additional, Fortea, Juan, additional, and Bejanin, Alexandre, additional

Published
2023
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23. Phosphorylated tau181 in plasma as a potential biomarker for Alzheimer’s disease in adults with Down syndrome

Author

Lleó, Alberto, Zetterberg, Henrik, Pegueroles, Jordi, Karikari, Thomas K., Carmona-Iragui, María, Ashton, Nicholas J., Montal, Victor, Barroeta, Isabel, Lantero-Rodríguez, Juan, Videla, Laura, Altuna, Miren, Benejam, Bessy, Fernandez, Susana, Valldeneu, Silvia, Garzón, Diana, Bejanin, Alexandre, Iulita, Maria Florencia, Camacho, Valle, Medrano-Martorell, Santiago, Belbin, Olivia, Clarimon, Jordi, Lehmann, Sylvain, Alcolea, Daniel, Blesa, Rafael, Blennow, Kaj, and Fortea, Juan

Published
2021
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24. VAMP-2 is a surrogate cerebrospinal fluid marker of Alzheimer-related cognitive impairment in adults with Down syndrome

Author

Lleó, Alberto, Carmona-Iragui, Maria, Videla, Laura, Fernández, Susana, Benejam, Bessy, Pegueroles, Jordi, Barroeta, Isabel, Altuna, Miren, Valldeneu, Silvia, Xiao, Mei-Fang, Xu, Desheng, Núñez-Llaves, Raúl, Querol-Vilaseca, Marta, Sirisi, Sònia, Bejanin, Alexandre, Iulita, M. Florencia, Clarimón, Jordi, Blesa, Rafael, Worley, Paul, Alcolea, Daniel, Fortea, Juan, and Belbin, Olivia

Published
2021
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25. Plasma glial fibrillary acidic protein and neurofilament light chain for the diagnostic and prognostic evaluation of frontotemporal dementia

Author

Zhu, Nuole, Santos-Santos, Miguel, Illán-Gala, Ignacio, Montal, Victor, Estellés, Teresa, Barroeta, Isabel, Altuna, Miren, Arranz, Javier, Muñoz, Laia, Belbin, Olivia, Sala, Isabel, Sánchez-Saudinós, Maria Belén, Subirana, Andrea, Videla, Laura, Pegueroles, Jordi, Blesa, Rafael, Clarimón, Jordi, Carmona-Iragui, Maria, Fortea, Juan, Lleó, Alberto, and Alcolea, Daniel

Published
2021
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26. The Sant Pau Initiative on Neurodegeneration (SPIN) cohort: A data set for biomarker discovery and validation in neurodegenerative disorders

Author

Alcolea, Daniel, Clarimón, Jordi, Carmona-Iragui, María, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Barroeta, Isabel, Ribosa-Nogué, Roser, Sala, Isabel, Sánchez-Saudinós, M. Belén, Videla, Laura, Subirana, Andrea, Benejam, Bessy, Valldeneu, Sílvia, Fernández, Susana, Estellés, Teresa, Altuna, Miren, Santos-Santos, Miguel, García-Losada, Lídia, Bejanin, Alexandre, Pegueroles, Jordi, Montal, Víctor, Vilaplana, Eduard, Belbin, Olivia, Dols-Icardo, Oriol, Sirisi, Sònia, Querol-Vilaseca, Marta, Cervera-Carles, Laura, Muñoz, Laia, Núñez, Raúl, Torres, Soraya, Camacho, M. Valle, Carrió, Ignasi, Giménez, Sandra, Delaby, Constance, Rojas-Garcia, Ricard, Turon-Sans, Janina, Pagonabarraga, Javier, Jiménez, Amanda, Blesa, Rafael, Fortea, Juan, and Lleó, Alberto

Published
2019
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27. Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study

Author

Fortea, Juan, Carmona-Iragui, María, Benejam, Bessy, Fernández, Susana, Videla, Laura, Barroeta, Isabel, Alcolea, Daniel, Pegueroles, Jordi, Muñoz, Laia, Belbin, Olivia, de Leon, Mony J, Maceski, Aleksandra Maleska, Hirtz, Christophe, Clarimón, Jordi, Videla, Sebastián, Delaby, Constance, Lehmann, Sylvain, Blesa, Rafael, and Lleó, Alberto

Published
2018
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28. Cerebrospinal fluid profile of NPTX2 supports role of Alzheimer’s disease-related inhibitory circuit dysfunction in adults with Down syndrome

Author

Belbin, Olivia, Xiao, Mei-Fang, Xu, Desheng, Carmona-Iragui, Maria, Pegueroles, Jordi, Benejam, Bessy, Videla, Laura, Fernández, Susana, Barroeta, Isabel, Nuñez-Llaves, Raúl, Montal, Victor, Vilaplana, Eduard, Altuna, Miren, Clarimón, Jordi, Alcolea, Daniel, Blesa, Rafael, Lleó, Alberto, Worley, Paul F., and Fortea, Juan

Published
2020
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30. Cortical microstructure in the amyotrophic lateral sclerosis–frontotemporal dementia continuum

Author

Illán-Gala, Ignacio, Montal, Victor, Pegueroles, Jordi, Vilaplana, Eduard, Alcolea, Daniel, Dols-Icardo, Oriol, de Luna, Noemi, Turón-Sans, Janina, Cortés-Vicente, Elena, Martinez-Roman, Luis, Sánchez-Saudinós, Maria Belén, Subirana, Andrea, Videla, Laura, Sala, Isabel, Barroeta, Isabel, Valldeneu, Sílvia, Blesa, Rafael, Clarimón, Jordi, Lleó, Alberto, Fortea, Juan, and Rojas-García, Ricard

Published
2020
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31. Diagnostic performance of plasma Aβ1-42, Aβ1-40 and pTau181 in the LUMIPULSE automated platform for the detection of Alzheimer disease

Author

Arranz, Javier, primary, Zhu, Nuole, additional, Rubio-Guerra, Sara, additional, Rodríguez-Baz, Iñigo, additional, Carmona-Iragui, María, additional, Barroeta, Isabel, additional, Illán-Gala, Ignacio, additional, Santos-Santos, Miguel, additional, Fortea, Juan, additional, Lleó, Alberto, additional, Tondo, Mireia, additional, and Alcolea, Daniel, additional

Published
2023
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32. Cross‐sectional versus longitudinal cognitive assessments for the diagnosis of symptomatic Alzheimer's disease in adults with Down syndrome

Author

Videla, Laura, primary, Benejam, Bessy, additional, Carmona‐Iragui, María, additional, Barroeta, Isabel, additional, Fernández, Susana, additional, Arranz, Javier, additional, Azzahchi, Sumia Elbachiri, additional, Altuna, Miren, additional, Padilla, Concepción, additional, Valldeneu, Silvia, additional, Pegueroles, Jordi, additional, Montal, Víctor, additional, Aranha, Mateus Rozalem, additional, Vaqué‐Alcázar, Lídia, additional, Iulita, Maria Florencia, additional, Alcolea, Daniel, additional, Bejanin, Alexandre, additional, Videla, Sebastià, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2023
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33. Basal forebrain atrophy along the Alzheimer's disease continuum in adults with Down syndrome

Author

Rozalem Aranha, Mateus, primary, Iulita, Maria Florencia, additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Bejanin, Alexandre, additional, Vaqué‐Alcázar, Lídia, additional, Grothe, Michel J., additional, Carmona‐Iragui, Maria, additional, Videla, Laura, additional, Benejam, Bessy, additional, Arranz, Javier, additional, Padilla, Concepción, additional, Valldeneu, Sílvia, additional, Barroeta, Isabel, additional, Altuna, Miren, additional, Fernández, Susana, additional, Ribas, Laia, additional, Valle‐Tamayo, Natalia, additional, Alcolea, Daniel, additional, González‐Ortiz, Sofía, additional, Bargalló, Núria, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Blesa, Rafael, additional, Wisniewski, Thomas, additional, Busciglio, Jorge, additional, Cuello, A. Claudio, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2023
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34. Plasma and cerebrospinal fluid glial fibrillary acidic protein levels in adults with Down syndrome: a longitudinal cohort study

Author

Montoliu-Gaya, Laia, primary, Alcolea, Daniel, additional, Ashton, Nicholas J., additional, Pegueroles, Jordi, additional, Levin, Johannes, additional, Bosch, Beatriz, additional, Lantero-Rodriguez, Juan, additional, Carmona-Iragui, María, additional, Wagemann, Olivia, additional, Balasa, Mircea, additional, Kac, Przemyslaw Radoslaw, additional, Barroeta, Isabel, additional, Lladó, Albert, additional, Brum, Wagner S., additional, Videla, Laura, additional, Gonzalez-Ortiz, Fernando, additional, Benejam, Bessy, additional, Arranz Martínez, Javier José, additional, Karikari, Thomas K., additional, Nübling, Georg, additional, Bejanin, Alexandre, additional, Benedet, Andrea L., additional, Blesa, Rafael, additional, Lleó, Alberto, additional, Blennow, Kaj, additional, Sánchez-Valle, Raquel, additional, Zetterberg, Henrik, additional, and Fortea, Juan, additional

Published
2023
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35. Association of biological sex with clinical outcomes and biomarkers of Alzheimer’s disease in adults with Down syndrome

Author

Iulita, M Florencia, primary, Bejanin, Alexandre, additional, Vilaplana, Eduard, additional, Carmona Iragui, María, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernández, Susana, additional, Altuna, Miren, additional, Pegueroles, Jordi, additional, Montal, Victor, additional, Valldeneu, Silvia, additional, Giménez, Sandra, additional, González-Ortiz, Sofía, additional, Torres, Soraya, additional, El Bounasri El Bennadi, Shaimaa, additional, Padilla, Concepcion, additional, Rozalem Aranha, Mateus, additional, Estellés, Teresa, additional, Illán-Gala, Ignacio, additional, Belbin, Olivia, additional, Valle Tamayo, Natalia, additional, Camacho, Valle, additional, Blessing, Esther, additional, Osorio, Ricardo S, additional, Videla, Sebastian, additional, Lehmann, Sylvain, additional, Holland, Anthony J, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Alcolea, Daniel, additional, Clarimón, Jordi, additional, Zaman, Shahid H, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2023
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36. Basal forebrain atrophy along the Alzheimer's disease continuum in adults with Down syndrome

Author

Instituto de Salud Carlos III, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), National Institutes of Health (US), Generalitat de Catalunya, Fundación Tatiana Pérez de Guzmán el Bueno, European Commission, Alzheimer's Association, Societat Catalana de Neurologia, Swedish Research Council, European Research Council, Alzheimer Drug Discovery Foundation, Olav Thon Foundation, The Erling-Persson Family Foundation, Gamla Tjänarinnor Foundation, Dementia Research Institute (UK), Hjärnfonden, Government of Sweden, Aranha, Mateus Rozalem, Iulita, Maria Florencia, Montal, Victor, Pegueroles, Jordi, Bejanin, Alexandre, Vaqué-Alcázar, Lídia, Grothe, Michel J., Carmona-Iragui, Maria, Videla, Laura, Benejam, Bessy, Arranz, Javier, Padilla, Concepción, Valldeneu, Sílvia, Barroeta, Isabel, Altuna, Miren, Fernández, Susana, Ribas, Laia, Valle-Tamayo, Natalia, Alcolea, Daniel, González-Ortiz, Sofía, Bargalló, Núria, Zetterberg, Henrik, Blennow, Kaj, Blesa, Rafael, Wisniewski, Thomas, Busciglio, Jorge, Cuello, A. Claudio, Lleó, Alberto, Fortea, Juan, Instituto de Salud Carlos III, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), National Institutes of Health (US), Generalitat de Catalunya, Fundación Tatiana Pérez de Guzmán el Bueno, European Commission, Alzheimer's Association, Societat Catalana de Neurologia, Swedish Research Council, European Research Council, Alzheimer Drug Discovery Foundation, Olav Thon Foundation, The Erling-Persson Family Foundation, Gamla Tjänarinnor Foundation, Dementia Research Institute (UK), Hjärnfonden, Government of Sweden, Aranha, Mateus Rozalem, Iulita, Maria Florencia, Montal, Victor, Pegueroles, Jordi, Bejanin, Alexandre, Vaqué-Alcázar, Lídia, Grothe, Michel J., Carmona-Iragui, Maria, Videla, Laura, Benejam, Bessy, Arranz, Javier, Padilla, Concepción, Valldeneu, Sílvia, Barroeta, Isabel, Altuna, Miren, Fernández, Susana, Ribas, Laia, Valle-Tamayo, Natalia, Alcolea, Daniel, González-Ortiz, Sofía, Bargalló, Núria, Zetterberg, Henrik, Blennow, Kaj, Blesa, Rafael, Wisniewski, Thomas, Busciglio, Jorge, Cuello, A. Claudio, Lleó, Alberto, and Fortea, Juan

Abstract

[Background] Basal forebrain (BF) degeneration occurs in Down syndrome (DS)-associated Alzheimer's disease (AD). However, the dynamics of BF atrophy with age and disease progression, its impact on cognition, and its relationship with AD biomarkers have not been studied in DS., [Methods] We included 234 adults with DS (150 asymptomatic, 38 prodromal AD, and 46 AD dementia) and 147 euploid controls. BF volumes were extracted from T-weighted magnetic resonance images using a stereotactic atlas in SPM12. We assessed BF volume changes with age and along the clinical AD continuum and their relationship to cognitive performance, cerebrospinal fluid (CSF) and plasma amyloid/tau/neurodegeneration biomarkers, and hippocampal volume., [Results] In DS, BF volumes decreased with age and along the clinical AD continuum and significantly correlated with amyloid, tau, and neurofilament light chain changes in CSF and plasma, hippocampal volume, and cognitive performance., [Discussion] BF atrophy is a potentially valuable neuroimaging biomarker of AD-related cholinergic neurodegeneration in DS.

Published
2023

37. White matter hyperintensities in Down syndrome: associations with demographic, genetic, fluid and imaging biomarkers of Alzheimer's disease

Author

Morcillo‐Nieto, Alejandra O., primary, Zsadanyi, Sara E., additional, Carmona‐Iragui, Maria, additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Aranha, Mateus Rozalem, additional, Padilla, Concepcion, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernandez, Susana, additional, Altuna, Miren, additional, Giménez, Sandra, additional, González‐Ortiz, Sofía, additional, Bargalló, Núria, additional, Ribas, Laia, additional, Arranz, Javier, additional, Torres, Soraya, additional, Iulita, Maria Florencia, additional, Belbin, Olivia, additional, Camacho, Valle, additional, Alcolea, Daniel, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, Fortea, Juan, additional, and Bejanin, Alexandre, additional

Published
2022
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38. Plasma NfL associated neurodegeneration in adults with Down syndrome

Author

Padilla, Concepcion, primary, Bejanin, Alexandre, additional, Montal, Victor, additional, Pegueroles, Jordi, additional, Carmona‐Iragui, Maria, additional, Aranha, Mateus Rozalem, additional, Vera, Elena, additional, Zua, Ania, additional, Videla, Laura, additional, Altuna, Miren, additional, Benejam, Bessy, additional, Ribas, Laia, additional, Arranz, Javier, additional, Fernandez, Susana, additional, Iulita, Maria Florencia, additional, Barroeta, Isabel, additional, Blesa, Rafael, additional, Alcolea, Daniel, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2022
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39. Changes of basal forebrain volume along the Alzheimer's disease continuum in Down syndrome.

Author

Aranha, Mateus Rozalem, Iulita, Maria Florencia, Montal, Victor, Pegueroles, Jordi, Bejanin, Alexandre, Grothe, Michel J., Carmona‐Iragui, Maria, Videla, Laura, Benejam, Bessy, Valldeneu, Sílvia, Barroeta, Isabel, Altuna, Miren, Fernandez, Susana, Ribas, Laia, Padilla, Concepcion, Alcolea, Daniel, González‐Ortiz, Sofía, Bargallo, Núria, Busciglio, Jorge A, and Cuello, A. Claudio

Abstract

Background: Atrophy of basal forebrain (BF) cholinergic neurons is an early event in Alzheimer's disease (AD) and is associated with cognitive impairment. Down syndrome (DS) is now recognized as a genetically determined form of AD. Therefore, people with DS represent a priority population to study biomarkers of AD pathology and neurodegeneration. Degeneration of BF neurons occurs both in sporadic AD and in DS brains with advanced AD pathology. However, the dynamics of BF atrophy and its changes with age and AT(N) biomarkers have not been studied in DS. Method: We included 246 adults with DS (mean age 43.2 ±11.0 years; 43% female). Volumes of antero‐medial and posterior areas of the BF (amBF and pBF, respectively) were extracted from T1‐weighted 3T MR images using voxel‐based morphometry in SPM12 in combination with a stereotactic atlas of BF functional subdivisions (Figure 1). Differences in amBF and pBF volume in each AD clinical stage (Asymptomatic, Prodromal and Demented) were assessed with Kruskall‐Wallis and pairwise Wilcoxon tests. The relationship of BF volumes with age and AT(N) biomarkers in the cerebrospinal fluid (CSF) (amyloid‐β 42/40 ratio [aβ ratio], phosphorylated Tau 181 [pTau], total Tau [tTau] and neurofilament light [NFL]) was assessed in a subset of subjects (n = 161 [aβ ratio, pTau and tTau] and n = 95 [NFL]) with locally estimated scatterplot smoothing (LOESS) and linear regression in R, respectively. Result: Volumes of amBF and pBF decreased significantly with age (Figure 2), with a steeper decline during the fifth decade of life. BF volumes also declined with AD clinical stage (Figure 3), and had significant correlations with CSF aβ ratio (p<0.001 r2 = 0.22), pTau (p<0.001 r2 = 0.20), tTau (p<0.001 r2 = 0.20) and NFL (p<0.001 r2 = 0.33) (Figure 4). Conclusion: In DS, BF volume decreases with age, AT(N) biomarkers and along the cognitive stages of the AD continuum. [ABSTRACT FROM AUTHOR]

Published
2023
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40. Longitudinal Clinical and Cognitive Changes Along the Alzheimer Disease Continuum in Down Syndrome

Author

Videla, Laura, primary, Benejam, Bessy, additional, Pegueroles, Jordi, additional, Carmona-Iragui, María, additional, Padilla, Concepción, additional, Fernández, Susana, additional, Barroeta, Isabel, additional, Altuna, Miren, additional, Valldeneu, Silvia, additional, Garzón, Diana, additional, Ribas, Laia, additional, Montal, Víctor, additional, Arranz Martínez, Javier, additional, Rozalem Aranha, Mateus, additional, Alcolea, Daniel, additional, Bejanin, Alexandre, additional, Iulita, Maria Florencia, additional, Videla Cés, Sebastià, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2022
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41. DYRK1A and Activity-Dependent Neuroprotective Protein Comparative Diagnosis Interest in Cerebrospinal Fluid and Plasma in the Context of Alzheimer-Related Cognitive Impairment in Down Syndrome Patients

Author

Moreau, Manon, primary, Carmona-Iragui, Maria, additional, Altuna, Miren, additional, Dalzon, Lorraine, additional, Barroeta, Isabel, additional, Vilaire, Marie, additional, Durand, Sophie, additional, Fortea, Juan, additional, Rebillat, Anne-Sophie, additional, and Janel, Nathalie, additional

Published
2022
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42. Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer's Disease

Author

Giménez, Sandra, Farre, Ariadna, Morente, Fátima, Videla Toro, Laura, Gutiérrez, Marta, Clos, Susana, Fernández, Ana, Blanco, Marta, Altuna-Azkargorta, Miren, Pegueroles, Jordi, Asensio, Amparo, Benejam, Bessy, Batista, Mar, Barroeta, Isabel, Fortuna, Ana, Fortea, Juan, Mayos, Mercedes, Universitat Autònoma de Barcelona, Giménez, Sandra, Farre, Ariadna, Morente, Fátima, Videla Toro, Laura, Gutiérrez, Marta, Clos, Susana, Fernández, Ana, Blanco, Marta, Altuna-Azkargorta, Miren, Pegueroles, Jordi, Asensio, Amparo, Benejam, Bessy, Batista, Mar, Barroeta, Isabel, Fortuna, Ana, Fortea, Juan, Mayos, Mercedes, and Universitat Autònoma de Barcelona

Abstract

Altres ajuts: Fundació La Marató de TV3 (20141210 to JF), Down syndrome (DS) is a genetic form of Alzheimer's disease (AD) with a high prevalence of obstructive sleep apnea (OSA). These characteristics place the DS population as an optimal model to study the relationship between sleep and AD and to design clinical trials of preventive sleep therapies for AD. Regrettably, OSA treatment with continuous positive airway pressure (CPAP) is often neglected in adults with DS. In both clinical practice and research trials, it is usually presumed that these patients will not adapt to or tolerate the therapy. We aimed to evaluate the feasibility and long-term CPAP compliance in this population and their capacity to be enrolled in CPAP research studies. We prospectively compared the CPAP compliance of 17 OSA patients with DS and 19 age and sex matched OSA euploid patients. CPAP management and follow-up schedules were prescribed according to the habitual clinical practice. We compared group differences in tolerance, objective, and subjective hours of nightly CPAP usage at the 1st, 3rd, 6th, 12th, 24th, and 36th month visits. Good compliance was defined as at least 4 h use per night. We also investigated predictive factors of long-term CPAP compliance. The percentage of DS subjects with good CPAP compliance (81.2 vs. 78.9%) and the objective CPAP use (5 vs. 6 h, p = 0.92) did not differ from the control group (CG). Subjective CPAP compliance was significantly higher in OSA patients with DS than in controls in all the follow-up visits (8 vs. 6.75 h, p = 0.001). The DS group had a significantly higher number of visits (9 vs. 5; p = 0.021) and mask changes (2.5 vs. 2; p = 0.05) than controls. Objective hours of CPAP use at the first follow-up visit predicted long-term CPAP compliance (p < 0.005). CPAP treatment is feasible and has good long-term compliance in OSA patients with DS. It should be recommended to improve health and prevent comorbidities. The DS population is indeed suitable to 536 __ $a Instituto de Salud Carlos III $f partici

Published
2022

43. Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome

Author

Iulita, Maria Florencia, primary, Garzón Chavez, Diana, additional, Klitgaard Christensen, Maria, additional, Valle Tamayo, Natalia, additional, Plana-Ripoll, Oleguer, additional, Rasmussen, Sonja A., additional, Roqué Figuls, Marta, additional, Alcolea, Daniel, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Benejam, Bessy, additional, Altuna, Miren, additional, Padilla, Concepción, additional, Pegueroles, Jordi, additional, Fernandez, Susana, additional, Belbin, Olivia, additional, Carmona-Iragui, María, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, Bejanin, Alexandre, additional, and Fortea, Juan, additional

Published
2022
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44. Feasibility and Long-Term Compliance to Continuous Positive Airway Pressure Treatment in Adults With Down Syndrome, a Genetic Form of Alzheimer’s Disease

Author

Giménez, Sandra, primary, Farre, Ariadna, additional, Morente, Fátima, additional, Videla, Laura, additional, Gutiérrez, Marta, additional, Clos, Susana, additional, Fernández, Ana, additional, Blanco, Marta, additional, Altuna, Miren, additional, Pegueroles, Jordi, additional, Asensio, Amparo, additional, Benejam, Bessy, additional, Batista, Mar, additional, Barroeta, Isabel, additional, Fortuna, Ana, additional, Fortea, Juan, additional, and Mayos, Mercedes, additional

Published
2022
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45. Differential levels of Neurofilament Light protein in cerebrospinal fluid in patients with a wide range of neurodegenerative disorders

Author

Delaby, Constance, Alcolea, Daniel, Carmona Iragui, María, Illán-Gala, Ignacio, Morenas Rodríguez, Estrella, Barroeta, Isabel, Altuna-Azkargorta, Miren, Estellés, T., Santos-Santos, M., Turon-Sans, J., Muñoz, L., Ribosa-Nogué, Roser, Sala-Matavera, I., Sánchez-Saudinós, María Belén, Subirana, A., Videla Toro, Laura, Benejam, Bessy, Sirisi Dolcet, Sonia, Lehmann, S., Belbin, Olivia, Clarimón, Jordi, Blesa, Rafael, Pagonabarraga Mora, Javier, Rojas-Garcia, Ricard, Fortea, Juan, Lleó, Alberto, Universitat Autònoma de Barcelona, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Centro de Investigacion Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III [Madrid] (ISC), German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Ludwig-Maximilians-Universität München (LMU), CIBER de Enfermedades Raras (CIBERER), and Salvy-Córdoba, Nathalie

Subjects
0301 basic medicine, Male, Pathology, Neurology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Neurodegenerative Diseases, Cohort Studies, 0302 clinical medicine, Cerebrospinal fluid, Neurofilament Proteins, MESH: Early Diagnosis, Medicine, Amyotrophic lateral sclerosis, MESH: Neurofilament Proteins, MESH: Cohort Studies, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Aged, Multidisciplinary, Neurodegeneration, Neurodegenerative Diseases, MESH: Follow-Up Studies, Disease Progression, Female, MESH: Disease Progression, Alzheimer's disease, Frontotemporal dementia, medicine.medical_specialty, Science, Neuroaxonal Dystrophies, Article, Progressive supranuclear palsy, 03 medical and health sciences, mental disorders, Humans, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Aged, MESH: Humans, business.industry, Dementia with Lewy bodies, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease, MESH: Neuroaxonal Dystrophies, MESH: Male, 030104 developmental biology, Early Diagnosis, MESH: Biomarkers, business, MESH: Female, 030217 neurology & neurosurgery, Biomarkers, Follow-Up Studies
Abstract

Altres ajuts: "Marató TV3" grant (20141210, 044412, 20143710). Cerebrospinal fluid (CSF) biomarkers are useful in the diagnosis and the prediction of progression of several neurodegenerative diseases. Among them, CSF neurofilament light (NfL) protein has particular interest, as its levels reflect neuroaxonal degeneration, a common feature in various neurodegenerative diseases. In the present study, we analyzed NfL levels in the CSF of 535 participants of the SPIN (Sant Pau Initiative on Neurodegeneration) cohort including cognitively normal participants, patients with Alzheimer disease (AD), Down syndrome (DS), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). We evaluated the differences in CSF NfL accross groups and its association with other CSF biomarkers and with cognitive scales. All neurogenerative diseases showed increased levels of CSF NfL, with the highest levels in patients with ALS, FTD, CBS and PSP. Furthermore, we found an association of CSF NfL levels with cognitive impairment in patients within the AD and FTD spectrum and with AD pathology in DLB and DS patients. These results have implications for the use of NfL as a marker in neurodegenerative diseases.

Published
2020

46. Additional file 2 of Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease

Author

Benejam, Bessy, Aranha, Mateus Rozalem, Videla, Laura, Padilla, Concepción, Valldeneu, Silvia, Fernández, Susana, Altuna, Miren, Carmona-Iragui, Maria, Barroeta, Isabel, Iulita, Maria Florencia, Montal, Víctor, Pegueroles, Jordi, Bejanin, Alexandre, Giménez, Sandra, González-Ortiz, Sofía, Videla, Sebastián, Bartrés-Faz, David, Alcolea, Daniel, Blesa, Rafael, Lleó, Alberto, and Fortea, Juan

Abstract

Additional file 2. MRI acquisition protocols.

Published
2022
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47. Additional file 1 of The A��1���42/A��1���40 ratio in CSF is more strongly associated to tau markers and clinical progression than A��1���42 alone

Author

Delaby, Constance, Estell��s, Teresa, Zhu, Nuole, Arranz, Javier, Barroeta, Isabel, Carmona-Iragui, Mar��a, Ill��n-Gala, Ignacio, Santos-Santos, Miguel ��ngel, Altuna, Miren, Sala, Isabel, S��nchez-Saudin��s, M. Bel��n, Videla, Laura, Valldeneu, S��lvia, Subirana, Andrea, Tondo, Mireia, Blanco-Vaca, Francisco, Lehmann, Sylvain, Belbin, Olivia, Blesa, Rafael, Fortea, Juan, Lle��, Alberto, and Alcolea, Daniel

Subjects
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, ComputingMilieux_COMPUTERSANDEDUCATION, Data_FILES, ComputerApplications_COMPUTERSINOTHERSYSTEMS
Abstract

Additional file 1. Supplementary tables and figures.

Published
2022
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48. Additional file 1 of Neural correlates of episodic memory in adults with Down syndrome and Alzheimer’s disease

Author

Benejam, Bessy, Aranha, Mateus Rozalem, Videla, Laura, Padilla, Concepción, Valldeneu, Silvia, Fernández, Susana, Altuna, Miren, Carmona-Iragui, Maria, Barroeta, Isabel, Iulita, Maria Florencia, Montal, Víctor, Pegueroles, Jordi, Bejanin, Alexandre, Giménez, Sandra, González-Ortiz, Sofía, Videla, Sebastián, Bartrés-Faz, David, Alcolea, Daniel, Blesa, Rafael, Lleó, Alberto, and Fortea, Juan

Abstract

Additional file 1: Supplementary Figure 1. Study flow chart. Description of data: flow chart of included and excluded subjects. Footnote: ID, intellectual disability; mCRT, modified Cued Recall Test; MRI, magnetic resonance imaging; OCD, obsessive compulsive disorder.

Published
2022
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49. Plasma and Cerebrospinal Fluid Glial Fibrillary Acidic Protein Levels in Down Syndrome and Sporadic Alzheimer´S Disease: A Cross-Sectional Study

Author

Montoliu-Gaya, Laia, primary, Alcolea, Daniel, additional, Ashton, Nicholas J., additional, Pegueroles, Jordi, additional, Levin, Johannes, additional, Carmona Iragui, Maria, additional, Lantero-Rodriguez, Juan, additional, Karikari, Thomas K., additional, Barroeta, Isabel, additional, Kac, Przemyslaw Radoslaw, additional, Videla, Laura, additional, Gonzalez-Ortiz, Fernando, additional, Benejam, Bessy, additional, Nübling, Georg, additional, Benedet, Andrea L., additional, Blesa, Rafael, additional, Lleó, Alberto, additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, and Fortea, Juan, additional

Published
2022
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50. A multimodal study on the effect of sex on Alzheimer's disease clinical and biomarker changes in adults with Down syndrome

Author

Iulita, M. Florencia, primary, Bejanin, Alexandre, additional, Vilaplana, Eduard, additional, Carmona‐Iragui, Maria, additional, Benejam, Bessy, additional, Videla, Laura, additional, Barroeta, Isabel, additional, Fernandez, Susana, additional, Altuna, Miren, additional, Pegueroles, Jordi, additional, Montal, Victor, additional, Valldeneu, Sílvia, additional, Giménez, Sandra, additional, González‐Ortiz, Sofía, additional, Muñoz, Laia, additional, Padilla, Concepción, additional, Aranha, Mateus Rozalem, additional, Estellés, Teresa, additional, Illán‐Gala, Ignacio, additional, Belbin, Olivia, additional, Tamayo, Natalia Valle, additional, Camacho, Valle, additional, Wilson, Liam, additional, Annus, Tiina, additional, Osorio, Ricardo, additional, Videla, Sebastián, additional, Lehmann, Sylvain, additional, Holland, Anthony J, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Alcolea, Daniel, additional, Clarimón, Jordi, additional, Zaman, Shahid, additional, Blesa, Rafael, additional, Lleó, Alberto, additional, and Fortea, Juan, additional

Published
2021
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