Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature.

Abstract

Background:

Early onset Parkinson's disease (EOPD) is a neurodegenerative disease associated with the action ofto genetic factors. A mutated phospholipase A2 type VI gene (PLA2G6) is considered to be one of pathogenic genes involved in EOPD development. Although EOPD caused by a mutated PLA2G6 has been recorded in major databases, not all mutant genotypes have been reported. Here, we report a case of PLA2G6-related EOPD caused by a novel compound heterozygous mutation.

Case presentation:

The case was an of 26-year-old young male with a 2-year course of disease. The onset of the disease was insidious and developed gradually. The patient presented with unsteady walking, bradykinesia, unresponsiveness, and decreased facial expression. Auxiliary examination showed a compound heterozygous mutation of the PLA2G6gene with c.991G > T and c.1427 + 1G > A. Mild atrophy of the cerebrum and cerebellum was detected on brain MRI. The patient was diagnosed with EOPD. We administered treatment with Madopar, which was effective. After a two-year disease course, we observed progression to stage 5 according to the Hoehn-Yahr Scale (without medicine in the off-stage). An MDS-UPDRS III score of 62 was obtained, with characteristics of severe disease and rapid progress. The diagnosis was an EOPD phenotype caused by a combination of mutations at the c.991G > T and c.1427 + 1G > A sites of the PLA2G6gene.

Conclusion:

After active treatment, the disease was set under control, with no significant progression during the three-month follow-up period. Dyskinesia did not recur after reducing the Madopar dose. The freezing sign was slightly decreased and the wearing-off was delayed to 2 h.

• Authors: Lili Gao, Chunlan Shi, Qing Lin, Yujing Wu, Liqi Hu, Mingwang Wang, Jianhua Guan, Sheng Lin, Yuansheng Liao, Chenghan Wu
• Journal: Frontiers in neuroscience (Front Neurosci) Vol. 16 Pg. 1064566 ( 2022) ISSN: 1662-4548 [Print] Switzerland
• PMID: 36570855 (Publication Type: Case Reports)
• Copyright: Copyright © 2022 Gao, Shi, Lin, Wu, Hu, Wang, Guan, Lin, Liao and Wu.