NUS1 and Parkinson disease: Based on the Human Gene Mutation Database, a total of 51 likely pathogenic or pathogenic mutations of NUS1 have been found, of which 20 mutations are associated with Parkinson's disease, 7 mutations are associated with congenital disorder of glycosylation, 2 mutations are associated with dystonia, and the remaining 22 mutations are mainly related to the symptoms of MRD55, such as intellectual disability, developmental delay, and seizures.