Search for: [Abstract = "The aim\: To investigate the relation between plasma α\-synuclein \(ASN\) level with symptoms and mutation of glucocerebrosidase \(GBA\) in patients with Parkinson’s disease \(PD\).Methods\: 138 patients with PD hospitalised in Neurology Department CMUJ were performed sequencing the 8th and 9th exon of GBA gene in the first phase of the research. In the second phase of the study plasma ASN level was tested in 58 patients with sequenced GBA gene and in 38 healthy volunteers \(HV\). PD patients were assessed with the scales\: UPDRS, Hoehn\-Yahr, MMSE, MoCa, neuropsychological tests, HDRS, PD NMS Quest and SF\-36. PIGD or TD subtype were qualified on the basis of UPDRS.The results\: There were 5 \(3.6%\) persons with N370S mutation in the group of 138 patients. The ASN level did not differ between patients and HV \(respectively\: 4,53 vs. 3,73 ng\/ml\), between patients with different subtypes of the disease, there was no relation with non\-motor symptoms and N370S mutation. There was inverse correlation between ASN and the disease severity in men, in PIGD and in patients with the disease lasting for ≤ 10 years. Ill men had higher ASN level than ill women.Conclusions\: Plasma ASN level is not valuable marker of the disease. It does not differ in subtypes of the disease and there is not relation with mutation N370S of GBA gene. There is relation between ASN plasma level and the severity of the disease in some subgroups of patients and with the sex."]

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