Mid-Atlantic Consortium Newsletter Summer 2013

Metabolic Imaging of Patients with GBA mutations and Parkinson’s disease

A pilot study conducted at the Children’s Hospital of Philadelphia (CHOP) and directed by Jaya Ganesh, M.D., is examining a suspected association between a specific gene mutation in people with Gaucher’s disease and their increased risk for Parkinson’s disease later in life. Gaucher’s disease is a rare genetic disorder that mostly affects people of European Jewish ancestry, although it also is seen in other groups. When both unaffected parents carry the mutation that causes this disease, their children have a one in four chance of inheriting the two copies of the mutation needed to cause it.


Gaucher’s can affect multiple organs, including the brain, but its effects vary; many affected children live well into adulthood. For these adults, as well as carriers of only one copy of the Gaucher’s mutation, risk for Parkinson’s disease is increased. To find out why, this study will use state-of-the-art positron emission tomography (PET) scanning of adults with Gaucher disease mutations to determine how it affects relevant brain function.

The groups are 1) those with Gaucher’s disease; 2) those who are carriers of the mutation but do not, themselves, have Gaucher’s disease; and 3) those with Parkinson disease who are neither affected with Gaucher disease nor carriers of the Gaucher gene mutation.

This pilot study is designed to determine whether PET scans can detect differences in the brains among these three groups of people. Additionally, the study will try to see if PET scans can identify abnormalities that predict future Parkinson’s disease in adults with a Gaucher’s disease mutation.

Participants in this study will include adults more than 30 years of age, including people with known mutations for Gaucher’s disease, carriers of the mutation, and patients with Parkinson’s disease but without these mutations.

For more information, contact Ganesh by phone at 215-590-3376 or by email at ganesh@email.chop.edu.