Category Archives: Brain Research

GBA Mutations & Parkinsons, Dimitri Krainc M.D. PhD

The recurrent observation of accumulation and aggregation of mutant proteins in different neurodegenerative disorders indicates the possibility of a shared pathogenic mechanism. Recent data suggest that elimination of mutant protein accumulation can lead not only to a halt of symptomatic progression but also to regression of the disease.

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Parkinsons Gaucher story … by Ellen Sidransky M.D.

As a physician and a scientist, I study a rare disorder, Gaucher disease. I have been motivated to continue to study Gaucher disease for the past 25 years because I feel that our understanding of basic aspects of this disorder are still lacking, and that my patients with Gaucher disease, whom I have grown to know and love, will benefit from these discoveries.

Unexpected Association – However during the past 10 years, a discovery made in the Gaucher clinic has shown that studying a rare disorder can also have far broader implications. We noted that a few of our patients with Gaucher disease developed symptoms of Parkinson disease. This was a relatively rare occurrence, and initially we thought that it could be a coincidence- after all, having a rare disorder does not make you immune from other common diseases. But the finding persisted, and in 1994, I published an article describing 18 patients with Gaucher disease who had developed a seemingly unrelated movement disorder, Parkinson disease.

Parkinson disease is a common disorder that is known to have a complex inheritance. This means that unlike Gaucher disease, which results from mutations in one specific gene, Parkinson disease can have many causes and many genes likely contribute to how the disease presents. Patients with Parkinson disease develop a resting tremor that often begins on one side, but they can also have slowed movements, unstable posture and gait, and at times, dementia. It affects about 1.5% of the population over age 65, and the risk increases with advancing age. There are disorders associated with Parkinson disease called the Lewy body dementias that have similar manifestations, but more progressive dementia.

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21st Century Research … a new approach

 

The Parkinson’s and Brain Research Foundation is supporting leading medical scientists in the United States and Europe who are pursuing a 21st century approach to finding a cure for Parkinson’s disease. Prominent researchers at Harvard University, the National Institutes of Health, and University College London discovered the most common genetic risk factor for Parkinson disease – mutation of the GBA gene – a gene that causes a rare hereditary brain disorder called Gaucher. Carriers of this Gene are predisposed to the development of Parkinson’s – and – Recent and unexpected findings show the possibility of a shared pathogenic mechanism. The Parkinson’s and Brain Research Foundation is seeking a cure for Parkinson’s by funding medical research with prominent scientists who are focusing on the GBA Link. Medical history is awash with examples of progress being made on one disease as a result of links to another disease.  Our International Scientific Advisory Board chooses cutting-edge multi-disciplinary medical research – research that takes a 21st Century approach – a new approach to solve the mystery of Parkinson’s.

One Small Discovery – can unlock the mystery. Your Gift – can help find a cure.

The only thing incurable, is our passion!

 

Parkinson’s Researchers Attend a Gaucher Meeting … WHY?

Why would a Parkinson’s Researcher come to a Gaucher meeting?
I work on Parkinson’s disease which affects half a million Americans… including, Michael J Fox, Mohamed Ali, Janet Reno as well as Pope John Paul II. Gaucher’s disease, in contrast, affects between 5,000 and 10,000 Americans.
The answer is simple:

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Jewish Daily Forward … Parkinson’s Linked

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 son’s participation might help him and others with the potentially fatal inherited metabolic disorder.

Continue reading Jewish Daily Forward … Parkinson’s Linked