Neuronopathic Gaucher disease, also known as Gaucher disease type 2 and 3, is a rare metabolic disorder that occurs in newborns and infants. It affects approximately 1,000-2,000 patients in the US and Europe.
Neuronopathic Gaucher is caused by a mutation in the GBA1 gene that encodes the enzyme β-glucocerebrosidase. This enzyme plays a key role in breaking down a fatty substance called glucocerebroside that naturally accumulates in certain organs. A deficiency of β-glucocerebrosidase leads to an abnormal accumulation in the central nervous system causing severe early-onset neurological syndrome.
Parkinson’s disease is a neurodegenerative disorder affecting more than 10 million people worldwide, including 2-3% of people over age 65.
Recently, mutations in the GBA1 gene have emerged as the most common genetic risk factor for developing the disease with 10% of Parkinson’s patients having GBA1 mutations (~1 million patients). The role of the GBA1 gene has been well-studied due to its role in Gaucher disease, and research to understand its involvement in Parkinson’s is underway.