Alessio Di Fonzo, MD, PhD, neurologist at the University of Milan, discusses research looking into the connection between Gaucher disease and Parkinson’s.
Gaucher Disease
Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of lipids accumulate in various cells and tissues in the body. Signs and symptoms vary widely among affected individuals and may include:
- Skeletal disorders
- Enlarged spleen and liver (hepatosplenomegaly)
- Liver malfunction
- Anemia
- Low platelet counts
- Bone problems
- Neurological problems
There are different types of Gaucher disease classified according to specific features and severity. It is caused by genetic changes in the GBA gene.
Parkinson’s
Parkinson’s disease is a neurological disorder causing unintended or uncontrollable movements, such as shaking, stiffness, and difficulty with balance and coordination.
Symptoms usually begin gradually and worsen over time. As the disease progresses, people may have difficulty walking and talking. They may also have mental and behavioral changes, sleep problems, depression, memory difficulties, and fatigue.
One clear risk is age: Although most people with Parkinson’s first develop the disease after age 60, about 5% to 10% experience onset before the age of 50. Early-onset forms of Parkinson’s are often inherited and some forms have been linked to specific alterations in genes.
Study
As Dr. Di Fonzo explains, GBA1 gene mutations are the most common risk factor for Parkinson’s and play a role in Gaucher disease. The goal of the study was to estimate the risk of Parkinson’s based on age, sex, GBA1 genotype category, and disease severity. Despite their genetic similarities, the study observed that only 2-3% of Gaucher disease type 1 patients developed Parkinson’s, with an 11% risk after age 80. This is compared to the 1% risk for those without Gaucher disease. Therefore, there is an increased risk but not one that is of major concern to researchers.
To learn more about rare neurological diseases, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/