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 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.