Clinical and genetic insights of Parkinson's Disease in a Mexican cohort: highlighting Latino's diversity

This study aims to describe the establishment of the Mexican Parkinson's Research Network (MEX-PD), a consortium dedicated to investigating the clinical, genetic, environmental, and neurophysiological underpinnings of phenotypic diversity in Mexican Parkinson's disease (PD) patients and to present preliminary clinical and genetic outcomes.

PD patients and control participants were recruited from medical centers across Mexico. The initial recruitment phase involved comprehensive neurological evaluations, cognitive assessments, and DNA collection. We conducted classical statistical analyses on clinical variables. Secondly, following genotyping with NeuroBooster array, quality control and imputation, preliminary analysis of ancestry composition, allele frequency calculation and association analysis was carried out for 294 samples.

The cohort consisted of 530 control participants and 470 PD patients, with a mean age of diagnosis of 59.9 ± 11.52 years. Among the PD patients, 21.2% were identified as having early-onset PD (<50 years old). Ancestry composition analysis revealed that the main components were European (49.8% in cases and 42.4% in controls) and Native American (46.1% in cases and 54.3% in controls). Variants in genes such as NOTCH, LRRK2, MTHFR and KPNA1 emerged as relevant to be prioritized in future studies.

The MEX-PD consortium will contribute to the understanding of PD within the Mexican population. The data collected will enable a deeper comprehension of the specific contributions of genetic and environmental factors to these outcomes.

This research advocates for the development of personalized treatments and aims to improve the quality of life for Mexican PD patients.