PRJNA682520
LRRK2 gene rare variants in haplotype as a potential risk factor for endemic parkinsonism in southeastern Moravia, Czech Republic
Parkinsonism is common neurodegeneration disease. In most cases, it is sporadic disorder, but there were described familial form. There are different causes, usually combination of many factors-environmental factors, epigenetics and genetic backround.The variants in genes which are associated with mitochondrial function and ubiquitination process could be an important risk factor for development parkinsonism.The aim of our study was assessment of the genetic background in patients from isolated region in the Czech Republic with higher prevalence of parkinsonism. We sequenced 15 genes which are associated with the disease using next generation sequencing, platform Ion Torrent.No founder pathogenic variant has been found in any of the probands. Besides, we found rarer genetic variants, which cloud be potencial risk factor for parkinsonism development.