Are Gaucher Disease and Parkinson's Linked?

The NIH Is Investigating a Possible Connection

Courtesy of Ted Meyer

Richard Meyer: The New York folk singer had Gaucher; he died in June of Parkinsons disease. His brother Ted Meyer undergoes brain imaging and other tests as part of the NIH study.

Ted Meyer was six years old the first time he got involved in medical research, by donating a sample of bone marrow. He had just been diagnosed with Gaucher disease, and his parents hoped their sons participation might help him and others with the potentially fatal inherited metabolic disorder.

Meyer, 54, is still actively participating in Gaucher research though it has taken an unexpected turn in the past few years. The Los Angeles-based artist is part of a federally funded study at the National Institutes of Health (NIH) aimed at understanding a genetic link between Gaucher, a rare disease that disproportionately affects Jews of Ashkenazi descent, and Parkinsons disease, a progressive movement disorder that affects more than 1.5 million older Americans.

Meyers brother Richard, who was likewise diagnosed with Gaucher as a child, went on to develop Parkinsons in his late 40s. Richard Meyer, a New York City-based folk singer, died in June at the age of 59. We really didnt know what Richard was in for, Meyer said of his brothers struggle with Parkinsons. It was a very long, slow, degrading, debilitating, personality-stealing illness.

Both brothers had signed on to take part in the NIH study that is looking for early signs of Parkinsons in patients who have Gaucher or are carriers of the Gaucher gene. Ted Meyer, an artist-in-residence at UCLAs David Geffen School of Medicine, said his brother had requested that his body be donated to science after his death. Ted plans to continue on his own in the NIH study, which entails periodic brain imaging and other testing. I will admit I have trepidations about taking the next step, though I dont see any signs of Parkinsons, Meyer said. But at night when I get a twitch, I cant help but think of the possible ramifications.

The possibility that a rare genetic disease, Gaucher, might inform the understanding and treatment of a far more common, multifactorial disease, Parkinsons and vice versa has caught the attention of the scientific community. People ask, Why do you spend your life studying a rare disorder? said Dr. Ellen Sidransky, chief of the section on Molecular Neurogenetics at the NIHs National Human Genome Research Institute, who has been studying Gaucher disease since the 1980s. I believe that people with rare disorders need effective treatment, but in addition, I have learned that rare diseases can teach us about fundamental aspects of biology that can shed light on more common disorders.

Gaucher disease is caused by mutations in the gene known as GBA, which is involved in the production of an enzyme that breaks down a fatty substance called glucocerebroside. When the enzyme is absent or defective, this fatty substance can collect in the spleen, liver and bone marrow, causing damage. Some forms of Gaucher involve associated neurological symptoms, as well. Symptoms vary in severity some Gaucher patients with a rare subtype die in infancy; in other patients, symptoms are barely detectable.

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Are Gaucher Disease and Parkinson's Linked?