<p>We have an ongoing study that has recruited families having at least a sibling pair with Parkinson disease (PD). Families have been screened for mutations in known PD causative genes (LRRK2, parkin, etc). Following review of families without a causative mutation, we selected families for whole exome sequencing that had the strongest history of PD and with the most definitive diagnosis. All families have at least 3 affected family members who were evaluated as part of this study. Only affected family members were included for whole exome sequencing.</p>

Whole Exome Sequencing in Familial Parkinson Disease

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations