| Objective: To summarize the clinical symptoms and perform mutation screening of patients in early-onset Parkinson’s disease with the view to help with early gene screening,diagnosis and prognosis of the disease.Methods: To collect clinical data of sporadic EOPD patients who were diagnosed in the department of neurology of the First Affiliated Hospital of Xiamen University from September 2018 to December 2020.EOPD clinical features were analyzed and patients were grouped according to whether they had constipation or not for comparison.Venous blood was collected and DNA was extracted for MLPA analysis,and whole exome sequencing were performed in EOPD patients with gene rearrangement or age of onset less than 45.Results: 1.65 patients were included and divided into a constipation group and a group without constipation.There was no significant difference in gender,age at onset,and levodopa equivalent daily dose(P > 0.05).Compared with the non-constipation group,constipation group had longer disease course,higher MDS-UPDRS III total score and later H-Y stage(P<0.05).2.Among them,1 case was PARKIN gene duplication mutation in exons 3 and 4,1 case was PARKIN gene duplication mutation in exons 2 and 1 case was SNCA gene missense mutation in exon 1.A total of 16 participants harbored 27 variants: 1 patient carried pathogenic variant in PLA2G6,1 patient carried pathogenic variant in GBA,1 patient carried risk variant in GIGYF2,remaining 13 patients had no pathogenic mutations.Conclusion: 1.EOPD patients with constipation had a longer disease duration,severe motor symptoms and worse overall disease severity.2.MLPA analysis combined with WES technology was beneficial to investigate pathogenic gene mutations in Parkinson’s disease,especially for Parkin and SNCA which had higher gene rearrangement mutation rate.3.Combined with previous literature reports,we summarized the clinical characteristics of patients with PLA2G6 gene p.D331 Y mutation. |
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