Objective: To analyze the CSF α-Synuclein and DJ1 Biomarkers correlating with SNCA and DJ1 gene polymorphisms and clinical parameters in PD.

Background: Currently there is no single biomarker fulfilling the criteria to predict the onset and progression of Parkinson’s disease. By studying a biomarker or combination of biomarkers helps in diagnosis and prognosis of PD.

Method: The CSF DJ1 and α-Synuclein levels were estimated using multiplex Human Neuroscience Magnetic Bead Panel -1 a 6-plex-kit.

Results: We could find a significantly lower levels of DJ1 (P=0.015) and α-Synuclein (P=0.0012) in cases compared with controls. When the same was compared among male and female patients we could find higher DJ1 levels with Females whereas α-Synuclein levels found higher with males but could not reach significance. When this was divided into < 10yrs DD group and >10yrs DD groups, we could find a higher DJ1 and α-Synuclein levels with <10yrs DD group but was not found significant. We could not find a significant difference in CSF DJ1 and α-Synuclein levels among EOPD and LOPD groups but was found higher with LOPD group. Among Dyskinesia presenting groups where higher levels were observed in Dyskinesia –ve group but could not reach significance. Clinical parameters such as age at onset, DD, UPDRS III OFF, ON, H&Y stage, S&E score, MoCA and LEDD were correlated with the concentrations, there was no significant correlation with the above clinical parameters but H&Y stage was showed a borderline negative correlation with CSF DJ1. Genetic polymorphisms were analysed, where the frequency of wild genotype was found 100% in both cases and controls of DJ1, LRRK2, EIF4G1, VPS35 and ATP13A2 polymorphisms. We could not find mutant genotypes among these candidate gene polymorphisms. Whereas one of the SNCA polymorphism A30P was showing the frequency of wild type genotype as  89.4% in case and 81.1% in controls, and heterozygous genotype as  10.6% in case and   18.9% in controls. The other two polymorphisms of SNCA i.e., A53T and E46K were showing 100% in both cases and controls.

Conclusion: This study demonstrates DJ-1 and α-synuclein in human CSF as helpful diagnostic markers, with relatively high sensitivity and moderate specificity.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/dj1-and-%ce%b1-synuclein-as-csf-biomarkers-and-gene-polymorphisms-association-with-clinical-parameters-in-parkinsons-disease/