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Sidransky and other researchers are now trying to figure out the common mechanism at work in Gaucher and Parkinson’s. They have multiple theories, some of which focus on the lysosome, the small organelle in the cell where the Gaucher enzyme functions. “The lysosome handles the breaking down of substances that the body does not need. The lysosome may also work to prevent the build-up of toxic substances that can lead to Parkinson’s disease. However, how this works is not totally understood,” Sidransky said. “Targeting the defective enzyme could potentially impact the treatment of Parkinson’s.”
Doctors at Children’s Hospital of Philadelphia have been treating some Gaucher patients for decades — the oldest is 80. Dr. Paige Kaplan, who established a Gaucher center at the hospital 21 years ago, said today’s patients often do so well with treatment that they don’t know what it means to be sick from Gaucher. “When they leave for college, we have to actually sit them down and tell them the signs and symptoms of Gaucher so they don’t go off and think they are so well that they don’t have to take the treatment anymore,” said Kaplan, professor emerita at the Perelman School of Medicine at the University of Pennsylvania.
Clinicians in the Gaucher clinic now routinely ask patients about neurological symptoms — changes in gait, behavior or personality; memory problems; handwriting becoming smaller — that could be indicative of Parkinson’s, and whether it runs in the family.
“We don’t want to stress patients out, but we also don’t want to ignore the connection,” Kaplan said.
The NIH’s ongoing long-term study of Gaucher patients and carriers is examining whether early signs of Parkinson’s are detectable using PET scans of the brain and other tests to measure physical, behavioral and cognitive changes. An initial report, just published in the journal Brain, indicated that patients with both Gaucher and Parkinson’s tend to have changes in brain blood flow similar to that seen in some patients with forms of dementia, Sidransky said.
However, most of the Gaucher participants who do not have Parkinson’s symptoms so far have normal brain scans.
“Finding the earliest symptoms of Parkinson’s in an at-risk group may enable us to target these patients with therapies that might prevent the development of Parkinson’s,” Sidransky said. “This could ultimately have implications for the treatment of others with this devastating disease.”
Shelley Viviani, 57, of Redwood City, Calif., is a patient taking part in the NIH study. A teacher of visually impaired students, she was diagnosed with Gaucher at age 19. Two of her three sisters are carriers of the disease, and one of them has also signed up for the study. Their father died of Parkinson’s disease at 67, and their mother was diagnosed with Parkinson’s-like disease after developing dementia. Viviani, who had hip replacement because of bone complications from Gaucher, said her medical problems seem “like a walk in the park” compared to what she witnessed with her parents’ Parkinson’s.
“I am not putting my head in the sand,” said Viviani. “If I can help researchers learn something that will give them insight into how to better treat Gaucher, perhaps prevent Parkinson’s — something, anything — then that would be fabulous.”
Susan FitzGerald is a Philadelphia-based medical writer and co-author of “Letting Go with Love and Confidence: Raising Responsible, Resilient, Self-Sufficient Teens in the 21st Century.” Contact her at firstname.lastname@example.org