Researchers find crucial link between Parkinson’s and Gaucher’s diseases

Gaucher's disease is the most common in Ashkenazi Jewish families, but quite rare in the world, compared to Parkinson’s, which affects 1% of people over age 60.

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November 9, 2015 22:47
1 minute read.
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A decline in the ability of people to distinguish among colors is characteristic of sufferers of the progressive and eventually fatal Parkinson’s disease – but is reduced among Gaucher’s disease patients who have “Parkinsonian” symptoms.

This was determined in just-published research carried out at Jerusalem’s Shaare Zedek Medical Center.

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The study was carried out by SZMC’s Gaucher center in cooperation with Prof.

Shlomi Siman-Tov of the ophthalmology department, with cooperation from Prof.

Nir Giladi of Tel Aviv Sourasky Medical Center and published in The Journal of Parkinson’s Disease.

The center has been functioning for 20 years at the Jerusalem hospital run by Prof. Ari Zimran. It treats some 750 patients and is thus the largest of its kind in the world.

Gaucher’s disease is a genetic disorder in which a type of lipid (fat) called glucocerebroside accumulates in cells and certain organs. Patients suffer from bruising, fatigue, anemia, low blood-platelet counts and the enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme that acts on glucocerebroside. However, a genetically engineered replacement now treats the disease.



The genetic disease is the most common in Ashkenazi Jewish families, but it is quite rare in the world, compared to Parkinson’s, which affects one percent of the general population over age 60.

Other studies have already shown that Gaucher carriers (who have only one of the two genes for the enzyme contains a mutation) are at risk for Parkinson’s disease, a progressive and eventually terminal condition of the nervous system marked by tremor, muscular rigidity and slow, imprecise movement, chiefly affecting middle-aged and elderly people.

However, Gaucher patients, who have a mutation in both genes and are expected to have a high risk of Parkinson’s, have been found to be at lower risk than non-carriers of Gaucher and are less likely to have color recognition problems. Dr.

Dvora Elstein, coordinator of research in the Gaucher clinic, who initiated and led the study, said the “important findings add more understanding of the connection and the differences between the two diseases.”

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