Gaucher and Parkinson’s Disease Research

If you have Gaucher disease (pronounced go-SHAY) or are a carrier, you have a slightly increased risk of developing Parkinson’s disease later in life. However, most patients and carriers will not end up developing this condition.

The Relationship Between Gaucher Disease and Parkinson’s Disease

Researchers have linked Gaucher disease to a slightly increased risk of having Parkinson’s disease later in life. This is also true for carriers, who do not have the disease but can pass it to their children.

In the general population, individuals have a 2 to 4 percent chance of developing Parkinson’s disease past age 60. It is important to note that the risk is still relatively low for patients and carriers of Gaucher disease:

  • Patients with Gaucher disease: The risk of developing Parkinson’s disease by age 70 is roughly 5 percent, rising to about 8 percent by age 80.
  • Gaucher disease carriers: The risk of developing Parkinson’s disease by age 70 is about 3 percent, increasing slightly by age 80.

Find out more about Gaucher disease carrier status, or learn about Gaucher disease inheritance and genetics.

Studies on Gaucher Disease, Parkinson’s Disease and Lewy Body Dementia

Gaucher disease, Parkinson’s disease and Lewy body dementia (LBD) all involve abnormal proteins. Proteins are chemicals that the body uses for many essential functions, and when they do not work properly it can cause problems that range from nondetectable to severe.

Recent findings on the relationship between Gaucher disease, Parkinson’s disease and LBD include:

  • Researchers have found that many of the same genes and proteins are involved in these diseases. Scientists are investigating how this overlap relates to the disease process.[1]
  • Patients with Parkinson’s disease or LBD with mutations in the GBA gene typically have an earlier disease onset and more severe symptoms.[4]
  • Imaging studies and tests can help identify early onset Parkinson’s disease in patients with low GBA enzyme activity.[2] This is why it is so important that patients with Gaucher disease see a specialist regularly who can monitor their health. Learn more about optimizing your health with Gaucher disease.

Protein Activity and Parkinson’s Disease

A specific protein called alpha-synuclein is essential for moving chemicals around within cells. Researchers are studying this protein to better understand the link between Gaucher disease and Parkinson’s disease.

Recent findings include:

  • Parkinson’s link: Misfolded alpha-synuclein may be an early trigger for Parkinson’s disease. It is often found in patients with Parkinson’s disease or LBD who also have a GBA gene mutation. The accumulation of misfolded proteins interferes with normal function of neurons (brain cells).4
  • Improper protein folding: Lab studies show a buildup of misfolded (improperly folded) alpha-synuclein where there are low levels of GBA enzyme. When you have misfolded alpha-synuclein, the proteins clump together and cannot do their job.
  • Balance of GBA enzyme and alpha-synuclein: The balance of GBA enzyme and alpha-synuclein may play a critical role in helping the body’s proteins work correctly. Too much alpha-synuclein may prevent the GBA enzyme from breaking down glucocerebroside.[3]

Learn more about the connection between Gaucher disease and associated conditions.

[1] Sidransky E. Gaucher Disease: Insights from a Rare Mendelian Disorder. Discovery Medicine. 2012;14(77):273-281.

[2] Lopez G, Sidransky E. Predicting parkinsonism: New opportunities from Gaucher disease. Molecular Genetics and Metabolism. 2013;109(3):235-6.

[3] Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain. 2014;137(5):1304-22.

[4] Nalls MA, Duran R, Lopez G, et al. A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies. JAMA Neurology. 2013;70(6):727-735.

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