Objective: To report and follow up a case of early-onset parkinsonism (EOP) caused by mutation of PLA2G6 gene and to improve the understanding and treatment of EOP patients. To report and follow up a case of early-onset parkinsonism (EOP) caused by mutation of PLA2G6 gene and to improve the understanding and treatment of EOP patients.

Background: Most of the patients with EOP had no obvious positive family history or their parents’ consanguineous marriage history. Most of the patients were young.Early diagnosis of disease on the quality of life and ability of career to patients is extremely important.

Methods: Though one case of early-onset Parkinson’s disease cause by PLA2G6 gene mutations with clinical data, combined with the review of published papers at home and abroad to review the diagnosis and treatment of early-onset Parkinson’s disease.

Results: Early-onset Parkinson’s disease mostly occurred in young people. It mainly manifested limb tremor and gait abnormalities, no dystonia and pyramidal tract sign. The superposition of multiple micro-gene mutations of PLA2G6 gene and the environmental factors might lead to the occurrence of disease. The radioactivity of AV133-VMAT2 PET/CT scan of the both side of corpus striatum were decreased. The onset side was more pronounced. Motor symptoms could be improved 32.73% under the treatment of anti-parkinsonism drugs assessed by UPDRSⅢ.

Conclusions: Early-onset Parkinson’s disease caused by mutation of PLA2G6 may be treated regularly with anti-Parkinson’s disease drugs.

References: Tian JY, Tang BS, Shi CH, et al. Analysis of PLA2G6 gene mutation in sporadicc early-onset parkinsonism patients from Chinese population[J]. Neurosci Lett, 2012, 514(2): 156-158. .DOI:10.1016/j. parkreldis. 2012.07.016. Malaguti MC, Melzi V, Di Giacopo R, et al. A novel homozygous PLA2G6 mutation causes dystonia- parkinsonism [J]. Parkinsonism Relat Disord. 2015. 21(3): 337-339. DOI:10.1016/j. parkreldis. 2015.01.001.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-of-early-onset-parkinsonism-caused-by-pla2g6-gene-mutation/