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“For example, we have found that 10% of Parkinson’s patients in the [United States] have a mutation in the GBA gene and that different types of GBA mutations accelerate the course of the ...
Parkinson's disease (PD), the second most common neurodegenerative disease after Alzheimer's disease, affects 1% of people over 60 years of age. [1] [2] [3] In the past three decades, the number of PD cases has doubled globally from 2.5 million in 1990 to 6.1 million in 2016. [4] [5] As of 2022, there are ~10 million PD cases globally. [6]
In patients with Parkinson's disease, the OR for carrying a GBA mutation was 5·43 (95% CI 3·89–7·57), confirming that mutations in this gene are a common risk factor for Parkinson's disease. [ 26 ]
The GBA gene encodes for glucocerebrosidase (GCase) which is a lysosomal enzyme that breaks down glucosylceramide into glucose. In the context of Parkinson's, mutations in GBA occur at a higher frequency than other genes indicated in PD.
A higher-than-expected prevalence of gene mutations in Parkinson’s disease patients suggests genetic testing should be offered to them more broadly, researchers said on Monday in the medical ...
Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides in macrophages that infiltrate many vital organs. [19] [20] Mutations in the glucocerebrosidase gene are also associated with Parkinson's disease. [21] [22]