Characteristics of Parkinson’s disease course in the heterozygous carriage of mutations in the glucocerebrosidase A gene

Abstract

Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase a (GBa) gene. according to our study, the frequency of the two most common mutations in the GBa gene, n370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. in carriers of GBa mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations. Cognitive deficit in PD patients carrying GBa mutations primarily affects visual-spatial functions and often is associated with psychotic disorders and parasomnias syndrome. Other non-motor disorders in patients with GBa mutations do not differ from those in patients without mutations. in patients with PD and GBa mutations, a slower escalation of levodopa dose should be recommended because of the high risk of complications of therapy.