Epidemiology and Tau Biology in a Longitudinal Cohort of Argentinian Patients with PSP and CBD

Pathway Grant

Principal Investigator: Dr. Blas Couto, Institute of Translational and Cognitive Neuroscience (INCyT), Buenos Aires, Argentina

Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are understudied in South America. The distinctive genetic background and several idiosyncratic lifestyle habits may correspond to differential risk and protective factors, often not present in North American and European patients. In addition, due to sample availability, or budget constraints, the majority of subjects included in genetic studies of PSP-CBD still represent populations of European ancestry. This lack of diversity in scientific knowledge certainly hampers therapy development, and advancements in medical care and precision medicine. In addition, due to the overlap of manifestations with other dementias or Parkinson’s disease, detection of CBD and PSP is challenging during the first five years, even for specialized health care professionals working in referral clinics.

We propose to study a group of Argentinian patients with CBD and PSP to develop a research-ready biobank with peripheral tissues. This will allow us to select candidates for investigating the microscopic phenomena in a lab where alive models of neurons are generated that will carry specific genetic traits of the Argentinian population. Given that CBD-PSP are rare diseases, and to increase the likelihood of enrolling representative cases, we will include patients with suggestive clinical diagnosis, perform a deep clinical and demographic characterization of their life and disease, and follow them up for a period of 18 months until either criteria of CBD or of PSP are fulfilled. In combination with the lab investigations, this will allow detection of those cases early in their disease journey and contribute to a tailored study of the causes that may lead to discover new treatments for these incurable neurological diseases.