Research Interest

This programme is devoted to the diagnosis and intervention, research and education in the field of neurodegenerative cognitive disorders and dementia. In addition, the group collaborates with pharmaceutical companies in the study of new drugs for the treatment of patients with cognitive problems (pharmacological clinical trials). The main interests are: investigations on clinical, molecular and imaging biomarkers that characterise the preclinical/predementia phases of Alzheimer disease and other neurodegenerative cognitive disorders; and investigation of biological pathways involved in the pathogenesis of neurodegenerative dementias.

Technologies & Methods

• Neuropsychological testing for early cognitive changes
• Neuroimaging: structural and functional MRI
• Blood and CSF biochemical markers
• Genetic counseling and genetic testing

Active Projects

• • Demencias genéticas (enfermedad de Alzheimer, demencia frontotemporal y enfermedades priónicas genéticas): cambios longitudinales y diferencias en expresión y epigenéticas con formas esporádicas. Ministerio de Ciencia, Innovación y Universidades. PI20/00448. Raquel Sanzchez-Valle.

• • Demencias genéticas (enfermedad de Alzheimer, demencia frontotemporal y enfermedades priónicas genéticas): cambios longitudinales y diferencias en expresión y epigenéticas con formas esporádicas. Fundació Clínic per a la Recerca Biomèdica. DN040718. Raquel Sanzchez-Valle.

• • Diagnóstico precoz de la enfermedad de Alzheimer mediante el perfil de linfocitos citotóxicos y caracterización de alteraciones del sueño. Instituto de Salud Carlos III. AC21_2/00007. Raquel Sanzchez-Valle.

• • DIAN-TU: Next generation prevention trial. National Institutes of Health (NIH). 5R01AG053267-02. Raquel Sanzchez-Valle.

• • DIAN-TU Primary prevention trial. National Institutes of Health (NIH). 1U01AG059798-01. Raquel Sanzchez-Valle.

• • Dominantly Inherited Alzheimer Network (DIAN). National Institutes of Health (NIH). UF1 AG032438. Raquel Sanzchez- Valle.

• • Genetic counseling in European universities: The case of neurodegenerative diseases. Education, Audiovisual and Culture Executive Agency. KA220-HED-F1522753. Raquel Sanzchez-Valle.

• • Understanding sleep-wake alterations in Alzheimer’s Disease. Alzheimer’s Association. GBHIALZUK-21-723831. Raquel Sanzchez-Valle.

• • Utilitat clínica i estudi cost-benefici dels actuals biomarcadors diagnòstics inous biomarcadors pronòstics en les demències d’inici primerenc. Departament de Salut de la Generalitat de Catalunya. SLT008/18/00061. Raquel Sanzchez- Valle.

• • 16 Confidential agreements.

Selected Publications

• • Barbier, M., Camuzat, A., Hachimi, K. E., Guegan, J., Rinaldi, D., Lattante, S., Houot, M., Sánchez-Valle, R., Sabatelli, M., Antonell, A., Molina-Porcel, L., Clot, F., Couratier, P., van der Ende, E., van der Zee, J., Manzoni, C., Camu, W., Cazeneuve, C., Sellal, F., Didic, M., … Le Ber, I. (2021). SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain, 144(9), 2798–2811. https://doi.org/10.1093/brain/awab171

• • Borrego-Écija, S., Turon-Sans, J., Ximelis, T., Aldecoa, I., Molina- Porcel, L., Povedano, M., Rubio, M. A., Gámez, J., Cano, A., Paré- Curell, M., Bajo, L., Sotoca, J., Clarimón, J., Balasa, M., Antonell, A., Lladó, A., Sánchez-Valle, R., Rojas-García, R., & Gelpi, E. (2021). Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants. Brain Pathology, 31(3), e12942. https://doi.org/10.1111/bpa.12942

• • Contador, J., Guillén, N., Tort-Merino, A., Balasa, M., Martínez, N. F., Olives, J., Castellví, M., Juncà-Parella, J., Borrego-Écija, S., Bosch-Capdevila, B., Fernández-Villullas, G., Ramos-Campoy, O., Antonell, A., Sanchez-Valle, R., & Lladó, A. (2021). Impact of COVID-19 pandemic in an early-onset dementia clinic in Barcelona. Alzheimer’s \& Dementia, 17(S7), e052114. https://doi.org/10.1002/alz.052114

• • de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernández, I., Montrreal, L., Antúnez, C., Antonell, A., Tankard, R. M., Bis, J. C., Sims, R., Bellenguez, C., Quintela, I., González- Perez, A., Calero, M., … Ruiz, A. (2021). Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores. Nature Communications, 12(1), 3417. https://doi.org/10.1038/s41467-021-22491-8

• • Diaz-Lucena, D., Kruse, N., Thüne, K., Schmitz, M., Villar-Piqué, A., da Cunha, J., Hermann, P., López-Pérez, Ó., Andrés-Benito, P., Ladogana, A., Calero, M., Vidal, E., Riggert, J., Pineau, H., Sim, V., Zetterberg, H., Blennow, K., Del Río, J. A., Marín-Moreno, A., Espinosa, J. C., … Llorens, F. (2021). TREM2 expression in the brain and biological fluids in prion diseases. Acta Neuropathologica, 141(6), 841–859. https://doi.org/10.1007/s00401-021-02296-1

• • Illán-Gala, I., Casaletto, K. B., Borrego-Écija, S., Arenaza-Urquijo, E. M., Wolf, A., Cobigo, Y., Goh, S., Staffaroni, A. M., Alcolea, D., Fortea, J., Blesa, R., Clarimon, J., Iulita, M. F., Brugulat-Serrat, A., Lladó, A., Grinberg, L. T., Possin, K., Rankin, K. P., Kramer, J. H., Rabinovici, G. D., … Rosen, H. J. (2021). Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve. Alzheimer’s & Dementia, 17(8), 1329–1341. https://doi.org/10.1002/alz.12299

• • Malpetti, M., Jones, P. S., Tsvetanov, K. A., Rittman, T., van Swieten, J. C., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Graff, C., Synofzik, M., Galimberti, D., Masellis, M., Tartaglia, M. C., Finger, E., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Ducharme, S., … Genetic FTD Initiative (GENFI) (2021). Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes. Alzheimer’s & Dementia, 17(6), 969–983. https://doi.org/10.1002/alz.12252

• • Molina-Martínez, P., Corpas, R., García-Lara, E., Cosín-Tomás, M., Cristòfol, R., Kaliman, P., Solà, C., Molinuevo, J. L., Sánchez- Valle, R., Antonell, A., Lladó, A., & Sanfeliu, C. (2021). Microglial Hyperreactivity Evolved to Immunosuppression in the Hippocampus of a Mouse Model of Accelerated Aging and Alzheimer’s Disease Traits. Frontiers in Aging Neuroscience, 12, 622360. https://doi.org/10.3389/fnagi.2020.622360

• • Montal, V., Vilaplana, E., Pegueroles, J., Bejanin, A., Alcolea, D., Carmona-Iragui, M., Clarimón, J., Levin, J., Cruchaga, C., Graff- Radford, N. R., Noble, J. M., Lee, J. H., Allegri, R., Karch, C. M., Laske, C., Schofield, P. R., Salloway, S., Ances, B., Benzinger, T., McDale, E., … Dominantly Inherited Alzheimer Network (DIAN). (2021). Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer’s disease. Alzheimer’s & Dementia17(4), 618–628. https://doi.org/10.1002/alz.12224

• • Pezzoli, S., Sánchez-Valle, R., Solanes, A., Kempton, M. J., Bandmann, O., Shin, J. I., Cagnin, A., Goldman, J. G., Merkitch, D., Firbank, M. J., Taylor, J. P., Pagonabarraga, J., Kulisevsky, J., Blanc, F., Verdolini, N., Venneri, A., & Radua, J. (2021). Neuroanatomical and cognitive correlates of visual hallucinations in Parkinson’s disease and dementia with Lewy bodies: Voxel-based morphometry and neuropsychological meta-analysis. Neuroscience and Biobehavioral Reviews, 128, 367–382. https://doi.org/10.1016/j.neubiorev.2021.06.030

• • Rojas, J. C., Wang, P., Staffaroni, A. M., Heller, C., Cobigo, Y., Wolf, A., Goh, S. M., Ljubenkov, P. A., Heuer, H. W., Fong, J. C., Taylor, J. B., Veras, E., Song, L., Jeromin, A., Hanlon, D., Yu, L., Khinikar, A., Sivasankaran, R., Kieloch, A., Valentin, M. A., … ALLFTD and GENFI consortia (2021). Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration. Neurology, 96(18), e2296–e2312. https://doi.org/10.1212/WNL.0000000000011848

• • Tort-Merino, A., Tarnanas, I., Bügler, M., Harms, R., Fernandez-Villullas, G., Juncà-Parella, J., Bosch, B., Lladó, A., Sanchez- Valle, R., & Balasa, M. (2021). ALTOIDA-iADL for the diagnosis of Mild Cognitive Impairment and early Alzheimer’s disease. Alzheimer’s & Dementia, 17(S12), e057982. https://doi.org/10.1002/alz.057982

• • Tsvetanov, K. A., Gazzina, S., Jones, P. S., van Swieten, J., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Jr, Graff, C., Synofzik, M., Galimberti, D., Masellis, M., Tartaglia, M. C., Finger, E., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Ducharme, S., Butler, C., … Genetic FTD Initiative, GENFI. (2021). Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia. Alzheimer’s & Dementia, 17(3), 500–514. https://doi.org/10.1002/alz.12209

• • Young, A. L., Bocchetta, M., Russell, L. L., Convery, R. S., Peakman, G., Todd, E., Cash, D. M., Greaves, C. V, van Swieten, J., Jiskoot, L., Seelaar, H., Moreno, F., Sanchez-Valle, R., Borroni, B., Laforce, R., Masellis, M., Tartaglia, M. C., Graff, C., … Galimberti, D. (2021). Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia with Disease Progression Modeling. Neurology, 97(9), e941–e952. https://doi.org/10.1212/WNL.0000000000012410