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A Recent Study Has Found a Crucial Link Between Parkinson’s and Gaucher’s Disease

A decreased ability to distinguish between colors is characteristic of people who suffer from Parkinson’s disease, but is less severe among those who have Gaucher’s disease with “Parkinsonian” symptoms. Although most of the world’s population is not as prone to developing Gaucher’s disease compared to Parkinson’s, Ashkenzi Jewish families are most commonly affected by it.  According to recent research conducted by Jerusalem’s Shaare Zedek Medical Center (SZMC), Gaucher’s disease is characterized by symptoms much like Parkinson’s disease but not as severe.  The study was led by Professor Shlomi Siman-Tov of the SZMC’s Gaucher Center’s opthalmology department and Professor Nir Giladi of Tel Aviv Sourasky Medical Center.  The study was published in The Journal of Parkinson’s Disease.

Gaucher’s disease is a genetic disorder that is characterized by the accumulation of glucocerebroside (a type of fat) in cells and certain organs. Its cause is a hereditary deficiency of the enzyme that stimulates glucocerobroside. Patients of this disease are prone to bruising, fatigue, anemia, low blood-platelet levels and the enlargement of the liver and spleen. A genetically engineered enzyme replacement is currently used to treat this disease.

According to other studies, Gaucher carriers (who carry only one of the two genes for the enzyme that possesses a mutation) are prone to Parkinson’s disease, a deadly condition of the nervous system that causes tremors, muscular rigidity and slow, inaccurate movement, primarily targeting people who are middle-aged and older.

On the other hand, Gaucher patients, who possess a mutation in both genes and are likely to have a high risk of Parkinson’s, have been identified to have a lower risk of Parkinson’s than non-carriers of Gaucher and are less likely to experience deficiencies in distinguishing colors.

According to Dvora Elstein, research coordinator of the Gaucher clinic, “important findings add more understanding to the connection between the two diseases.”