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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]
“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 ...
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 ]
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
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.
Gastrointestinal syndromes are known to be dysphagia, gastroparesis, and constipation among others, contributing to the risk of Parkinson's disease. From the understanding of these diseases, the disease modifying therapies are known to be aspects that help prevent the progress of these diseases that focus on the gut-brain axis.
Parkinson's disease (PD), or simply Parkinson's, is a neurodegenerative disease primarily of the central nervous system, affecting both motor and non-motor systems. Symptoms typically develop gradually, with non-motor issues becoming more prevalent as the disease progresses.
[87] [94] Mutations in GBA, a gene for a lysosomal enzyme, are associated with both DLB and Parkinson's disease. [95] Rarely, mutations in SNCA, the gene for alpha-synuclein, or LRRK2, a gene for a kinase enzyme, can cause any of DLB, Alzheimer's disease, Parkinson's disease or Parkinson's disease dementia. [87]