Chapter category: Neurodegenerative Disease
Chromosome 1 and Other Hotspots for Parkinson’s Disease Genes
Chapter authors:
The arena of Parkinson’s disease (PD) genetics is becoming more and more crowded with findings emerging from complementary approaches. Classical linkage analyses in families with Mendelian inheritance, affected-pairs analyses in smaller families, and studies in genetically isolated populations are all contributing different pieces of what is emerging as a complex etiopathogenetic mosaic. Here, we first focus on the novel monogenic forms (PARK6 to PARK9), which have been recently identified, and on DJ-1, the gene defective at the PARK7 locus. We then review the genome screens performed in the common, late-onset forms of the disease. These screens have delineated novel loci on chromosome 1p (PARK10) and 2q, and a list of other candidate regions for susceptibility or modifier genes. Further efforts are now needed to replicate/expand these findings and delineate/refine the regions of genuine linkage, in order to identify the biologically relevant genetic variants associated with, or modifying the PD phenotype.
