Genetic Analysis of Parkinson Disease

In collaboration with researchers at other institutions, we are performing genetic analysis of patients with Parkinson disease to identify genetic variants in several genes known to be mutated in the disorder.  Specifically, we perform the following:

• Sequencing and gene dosage (MLPA) for the gene encoding parkin (PARK2). This is the gene most commonly mutated in patients with early onset disease, but has also been shown to be mutated in patients with later onset, idiopathic forms of the disease.

• SNP genotyping is performed for the G2019S LRRK2 variants, the most commonly occurring mutation found in Parkinson disease patients.

• More recently, Parkinson patients have been shown to carry mutations/variants in the gene that, when mutated, results in Gaucher disease. We perform either SNP genotyping for the 10 most common Gaucher disease mutations occurring in the gene for glucocerobrosidase (GBA) or sequencing of the coding region to identify less common/novel variants.