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

TL;DR

This paper describes a new research initiative in Argentina to study rare brain disorders called PSP and CBS, aiming to improve understanding and treatment in underrepresented populations.

Contribution

The paper introduces a prospective cohort study in Argentina for PSP and CBS, highlighting feasibility in a developing country.

Findings

33 patients with PSP and CBS have been enrolled, with over 60% completing initial assessments and biosample collection.

Environmental exposures and clinical data are being systematically collected to support translational research.

One patient donated their brain for pathological confirmation of PSP, supporting clinical diagnosis accuracy.

Abstract

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.

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).

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.

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.

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.

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