Understanding Parkinson disease in Spain: Genetic and clinical insights.

ABSTRACT:

Background and purpose

Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of environmental and genetic factors. This study aimed to investigate genetic variants associated with PD and assess their impact on the disease phenotype through genotype-phenotype correlations.

Methods

We employed a targeted resequencing panel to analyze 27 genes linked to PD in a cohort of 1185 PD patients from southern Spain. Variants were categorized based on the American College of Medical Genetics and Genomics pathogenicity criteria. Demographic and clinical data were also collected.

Results

Among the patients analyzed, 13.5% carried potential disease-causing pathogenic or lik

SUBMITTER: Gomez-Garre P 

PROVIDER: S-EPMC11622318 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature