Objective: To generate a longitudinal cohort study and a research-ready biobank of Argentinian patients with corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP).

Background: Corticobasal syndrome and PSP have mainly been studied in patients of white ethnicity and European ancestry. Patients from South America share specific genotypes,[1] lifestyle habits and environmental exposures[2, 3] that may account for different vulnerability to develop CBS-PSP.

Method: To enroll patients for deep clinical and demographical phenotyping. In selected cohort candidates skin biopsy is collected for generation of fibroblast-derived induced pluripotent stem cells (iPSC) for further molecular studies of pathophysiology. We will additionally collect information of lifestyle habits and environmental exposures. Post-mortem analyses will include histopathology and transcriptomic profiles.

Results: Since October 2022, 8 patients were enrolled, with a mean age 69.5±7, 70%female. Four patients manifested Richardson syndrome, 3 had CBS, and 1 undifferentiated atypical parkinsonism with a mean disease duration of 2.4±2 years. Non-modifiable cardiovascular risk factors were present in 66%, and attentional-executive cognitive impairment in 70% of the patients. One patient underwent post-mortem neuropathology with diagnosis of typical PSP. Transcriptomic analyses from samples obtained of affected nuclei (basal ganglia and prefrontal cortex) are under way. Additionally, this patient completed the biosamples protocol from which undifferentiated fibroblast have been generated in vitro.

Conclusion: Our preliminary results confirm the feasibility of creating and launching a cohort study of CBS-PSP in Argentina. Patients enrolled showed typical clinical characteristics except for a potential higher prevalence of CBS compared with PSP.[4] Beyond one Brazilian report, information of PSP and CBS is lacking, as well as in other Latino populations.[5] The next step, generation of neuron models from iPSC-neurons, may help study of tau pathophysiology.

References: 1] D. P. Loesch et al., “Characterizing the Genetic Architecture of Parkinson’s Disease in Latinos,” (in eng), Ann Neurol, vol. 90, no. 3, pp. 353-365, 09 2021, doi: 10.1002/ana.26153.
[2] A. Bernardi et al., “Yerba mate (Ilex paraguariensis) favors survival and growth of dopaminergic neurons in culture,” (in eng), Mov Disord, vol. 34, no. 6, pp. 920-922, 06 2019, doi: 10.1002/mds.27667.
[3] E. M. Gatto, C. Melcon, V. L. Parisi, L. Bartoloni, and C. D. Gonzalez, “Inverse association between yerba mate consumption and idiopathic Parkinson’s disease. A case-control study,” (in eng), J Neurol Sci, vol. 356, no. 1-2, pp. 163-7, Sep 15 2015, doi: 10.1016/j.jns.2015.06.043.
[4] B. Couto et al., “The Rossy Progressive Supranuclear Palsy Centre: Creation and Initial Experience,” (in eng), Can J Neurol Sci, pp. 1-8, Jan 05 2023, doi: 10.1017/cjn.2022.332.
[5] P. E. Carrilho and E. R. Barbosa, “Progressive supranuclear palsy in a sample of Brazilian population: clinical features of 16 patients,” (in eng), Arq Neuropsiquiatr, vol. 60, no. 4, pp. 917-22, Dec 2002, doi: 10.1590/s0004-282×2002000600006.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/creation-of-a-biobank-of-patients-with-progressive-supranuclear-palsy-and-corticobasal-syndrome-in-argentina/