Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research
Background: Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are neurodegenerative disorders with disabling postural instability, falls and cognitive impairment associated with 4-repeat tau protein neuropathology. The low prevalence (6/100,000 inhabitants) is estimated with data...
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Elsevier
2025-01-01
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| Series: | Clinical Parkinsonism & Related Disorders |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S259011252500043X |
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| author | Maria Jose Angel Gabril F. Mizraji Gonzalo Gomez-Arevalo Garcia Silvia Maria Eugenia Gonzalez-Toledo Avale Elena Paez-Paz Indiana Falzone Tomas Holubiec Mariana C. Peralta Maria Castano Federico Sevlever Gustavo Mezmezian Monica Marras Connie Gershanik Oscar Chade Anabel Pardo Carolina Rellan Florencia Campastri Ana Couto Blas |
| author_facet | Maria Jose Angel Gabril F. Mizraji Gonzalo Gomez-Arevalo Garcia Silvia Maria Eugenia Gonzalez-Toledo Avale Elena Paez-Paz Indiana Falzone Tomas Holubiec Mariana C. Peralta Maria Castano Federico Sevlever Gustavo Mezmezian Monica Marras Connie Gershanik Oscar Chade Anabel Pardo Carolina Rellan Florencia Campastri Ana Couto Blas |
| author_sort | Maria Jose Angel |
| collection | DOAJ |
| description | Background: Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are neurodegenerative disorders with disabling postural instability, falls and cognitive impairment associated with 4-repeat tau protein neuropathology. The low prevalence (6/100,000 inhabitants) is estimated with data only from North American, European countries or Japan. Objective: A multicenter initiative for studying the epidemiology and tau biology of Argentinean patients with PSP and CBS and their ovelaps, Consorcio Argentino de Investigación Traslacional en Tauopatias Primarias (CAITauP). Methods: A prospective observational cohort of people with PSP (PwPSP), CBS and PSP/CBS overlaps will be longitudinally studied aiming at recruitment of 75 patients in 3 years. Deep clinical phenotyping, neurocognitive testing every 12 months, and biosamples collection at baseline are planned. Disease severity will be assessed every 6 months and history of environmental exposures will be assessed at baseline. Results: 33/75 expected patients with PSP (19) and CBS (14) have been enrolled. Female gender is 56%, mean age 76, with estimated disease duration of 4.73 years. More than 60% of enrolled patients have completed first visit and biosamples collection, one patient underwent brain donation, pathological diagnosis of PSP, clinical Richardson syndrome. Environmental exposures of a preliminary subsample are reported. Conclusions: The CAITauP enrolled a cohort of Argentinean PwPSP for deep clinical phenotyping and biobanking. Despite the rarity of PSP/CBS, we highlight the feasibility of establishing local cohorts in developing countries for translational research. The consortium aims to address underrepresented groups of Argentinean to improve diagnosis, treatment, and to create trial-ready cohorts. |
| format | Article |
| id | doaj-art-2bed71e3130045269f231ba8cb15aac5 |
| institution | DOAJ |
| issn | 2590-1125 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Clinical Parkinsonism & Related Disorders |
| spelling | doaj-art-2bed71e3130045269f231ba8cb15aac52025-08-20T03:08:21ZengElsevierClinical Parkinsonism & Related Disorders2590-11252025-01-011210033910.1016/j.prdoa.2025.100339Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational researchMaria Jose Angel0Gabril F. Mizraji1Gonzalo Gomez-Arevalo2Garcia Silvia3Maria Eugenia Gonzalez-Toledo4Avale Elena5Paez-Paz Indiana6Falzone Tomas7Holubiec Mariana8C. Peralta Maria9Castano Federico10Sevlever Gustavo11Mezmezian Monica12Marras Connie13Gershanik Oscar14Chade Anabel15Pardo Carolina16Rellan Florencia17Campastri Ana18Couto Blas19Institute of Cognitive and Translational Neuroscience (INCyT) Favaloro-INECO-CONICET, Buenos Aires, Argentina; Instituto de Nacional de Geriatría, Santiago de Chile, ChileUnidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, ArgentinaUnidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, ArgentinaUnidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, ArgentinaUnidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, ArgentinaINGEBI, Institute of Investigation in Genetic Engineering and Molecular Biology Dr Héctor N Torres, ArgentinaINGEBI, Institute of Investigation in Genetic Engineering and Molecular Biology Dr Héctor N Torres, ArgentinaInstituto de Biología Celular y Neurociencias (IBCN), Universidad de Buenos Aires, CONICET-UBA, Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA), Partner Institute of the Max Planck Society, CONICET-MPSP, Buenos Aires, ArgentinaInstituto de Biología Celular y Neurociencias (IBCN), Universidad de Buenos Aires, CONICET-UBA, Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA), Partner Institute of the Max Planck Society, CONICET-MPSP, Buenos Aires, ArgentinaClínica de Enfermedad de Parkinson y Movimientos Anormales, Departamento de Neurociencias, Hospital Universitario CEMIC, Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”, Buenos Aires, ArgentinaInstitute of Cognitive and Translational Neuroscience (INCyT) Favaloro-INECO-CONICET, Buenos Aires, ArgentinaLaboratorio de Neuropatología y Biología Molecular, Banco de cerebros, Fleni, ArgentinaLaboratorio de Neuropatología y Biología Molecular, Banco de cerebros, Fleni, ArgentinaEdmond J. Safra Program in Parkinson’s Disease, Rossy Program for PSP Research and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, Toronto, ON, CanadaInstitute of Cognitive and Translational Neuroscience (INCyT) Favaloro-INECO-CONICET, Buenos Aires, Argentina; Unidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, ArgentinaUnidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, Argentina; Institute of Cognitive Neurology (INECO), Buenos Aires, ArgentinaInstitute of Cognitive Neurology (INECO), Buenos Aires, ArgentinaInstitute of Cognitive Neurology (INECO), Buenos Aires, ArgentinaInstitute of Cognitive Neurology (INECO), Buenos Aires, ArgentinaInstitute of Cognitive and Translational Neuroscience (INCyT) Favaloro-INECO-CONICET, Buenos Aires, Argentina; Unidad de Movimientos Anormales, Instituto de Neurociencias de la Fundación Favaloro, Buenos Aires, Argentina; Institute of Cognitive Neurology (INECO), Buenos Aires, Argentina; Corresponding author at: Institute of Cognitive and Translational Neuroscience (INCyT), Marcelo T de Alvear 1632, Buenos Aires CA1020, Argentina.Background: Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are neurodegenerative disorders with disabling postural instability, falls and cognitive impairment associated with 4-repeat tau protein neuropathology. The low prevalence (6/100,000 inhabitants) is estimated with data only from North American, European countries or Japan. Objective: A multicenter initiative for studying the epidemiology and tau biology of Argentinean patients with PSP and CBS and their ovelaps, Consorcio Argentino de Investigación Traslacional en Tauopatias Primarias (CAITauP). Methods: A prospective observational cohort of people with PSP (PwPSP), CBS and PSP/CBS overlaps will be longitudinally studied aiming at recruitment of 75 patients in 3 years. Deep clinical phenotyping, neurocognitive testing every 12 months, and biosamples collection at baseline are planned. Disease severity will be assessed every 6 months and history of environmental exposures will be assessed at baseline. Results: 33/75 expected patients with PSP (19) and CBS (14) have been enrolled. Female gender is 56%, mean age 76, with estimated disease duration of 4.73 years. More than 60% of enrolled patients have completed first visit and biosamples collection, one patient underwent brain donation, pathological diagnosis of PSP, clinical Richardson syndrome. Environmental exposures of a preliminary subsample are reported. Conclusions: The CAITauP enrolled a cohort of Argentinean PwPSP for deep clinical phenotyping and biobanking. Despite the rarity of PSP/CBS, we highlight the feasibility of establishing local cohorts in developing countries for translational research. The consortium aims to address underrepresented groups of Argentinean to improve diagnosis, treatment, and to create trial-ready cohorts.http://www.sciencedirect.com/science/article/pii/S259011252500043XProgressive supranuclear palsyCorticobasal syndromeBiobankEnvironmentalLongitudinal cohort |
| spellingShingle | Maria Jose Angel Gabril F. Mizraji Gonzalo Gomez-Arevalo Garcia Silvia Maria Eugenia Gonzalez-Toledo Avale Elena Paez-Paz Indiana Falzone Tomas Holubiec Mariana C. Peralta Maria Castano Federico Sevlever Gustavo Mezmezian Monica Marras Connie Gershanik Oscar Chade Anabel Pardo Carolina Rellan Florencia Campastri Ana Couto Blas Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research Clinical Parkinsonism & Related Disorders Progressive supranuclear palsy Corticobasal syndrome Biobank Environmental Longitudinal cohort |
| title | Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research |
| title_full | Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research |
| title_fullStr | Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research |
| title_full_unstemmed | Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research |
| title_short | Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research |
| title_sort | prospective longitudinal cohort of argentinean patients with progressive supranuclear palsy and corticobasal syndrome a platform for epidemiological and translational research |
| topic | Progressive supranuclear palsy Corticobasal syndrome Biobank Environmental Longitudinal cohort |
| url | http://www.sciencedirect.com/science/article/pii/S259011252500043X |
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