Prospective longitudinal cohort of Argentinean patients with progressive supranuclear palsy and corticobasal syndrome: A platform for epidemiological and translational research

Abstract

Background: Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are neurodegenerative disorderswith disabling postural instability, falls and cognitive impairment associated with 4-repeat tau proteinneuropathology. 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 withPSP and CBS and their ovelaps, Consorcio Argentino de Investigaci´on Traslacional en Tauopatias Primarias(CAITauP).Methods: A prospective observational cohort of people with PSP (PwPSP), CBS and PSP/CBS overlaps will belongitudinally studied aiming at recruitment of 75 patients in 3 years. Deep clinical phenotyping, neurocognitivetesting every 12 months, and biosamples collection at baseline are planned. Disease severity will be assessedevery 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%, meanage 76, with estimated disease duration of 4.73 years. More than 60% of enrolled patients have completed firstvisit and biosamples collection, one patient underwent brain donation, pathological diagnosis of PSP, clinicalRichardson 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 fortranslational research. The consortium aims to address underrepresented groups of Argentinean to improvediagnosis, treatment, and to create trial-ready cohorts.