期刊
NEUROLOGICAL SCIENCES
卷 44, 期 3, 页码 905-912出版社
SPRINGER-VERLAG ITALIA SRL
DOI: 10.1007/s10072-022-06496-9
关键词
Parkinson's disease; LRP10; Variant; Sequencing
This study sequenced the LRP10 gene in 129 Chinese patients with PD and identified four potentially pathogenic mutations, providing further evidence for the association between LRP10 and PD in Chinese patients.
Background Parkinson's disease (PD) is a neurodegenerative disorder characterized by resting tremor, bradykinesia, muscle rigidity, and abnormal gait. The low-density lipoprotein receptor-related protein 10 (LRP10) was recently shown to be a causal gene for PD, and different ethnic cohorts have distinct frequencies and spectrum of LRP10 variants. Methods We sequenced the full coding regions and exon-intron boundaries of LRP10 in 129 patients with sporadic Chinese PD to further investigate the connection of LRP10 with PD in a sample of Chinese patients. Results In this study, we identified four potentially pathogenic mutations, including one novel mutation of p.Gly328Asp and three known mutations of p.Cys165Tyr, p.Arg230Trp, and p.Arg661His in four of the 129 Chinese patients with PD. Conclusion According to our study, the LRP10 gene may attribute to PD pathogenesis.
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