Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and Caucasian patients with PLA2G6 mutation through a comprehensive literature review.

Background: Background: Biallelic PLA2G6 mutations were identified to be responsible for autosomal-recessive early-onset parkinsonism, while PLA2G6-mutant parkinsonism has a huge clinical heterogeneity.

Method: We report 12 new cases of PLA2G6-related parkinsonism and perform a systematic literature review.

Results: Results: Twelve patients carrying 15 PLA2G6 variants including eight known variants and seven novel variants were identified. The age of onset was 26.42±7.12 years, 7 patients with parkinsonism, one with psychiatric symptoms and 4 patients with gait disturbance at the initial stage. The data of 95 Asian and 21 Caucasian parkinsonism patients with PLA2G6 mutation were collected from the literature. We found that Caucasian patients with PLA2G6 mutation had an onset 5 years earlier than the Asian patients, with a predominantly non-parkinsonian symptom at onset, mainly presenting with psychiatric symptoms and cognitive decline. Iron deposition from MRI was reported more often in Caucasian patients. The majority mutation pattern in Asian patients was homozygous mutation, and in Caucasian patients was compound heterozygous mutation due to less parental consanguinity. In addition, the mutations in PLA2G6 had an evident geographical clustering.

Conclusion: Conclusion: We reported heterogeneity of early-onset parkinsonism patients with PLA2G6 mutation from Asian and Caucasian ethnicity. Wide clinical spectrum including parkinsonism, psychiatric and cognitive issues and early wearing-off and dyskinesias induced by levodopa were big challenges for clinicians. More studies and treatment guides are eagerly needed to give clinicians promising disease-modifying strategies and instruction.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-genetic-characteristics-of-pla2g6-parkinsonism-in-southwest-of-china-and-a-review-of-heterogeneity-of-phenotype-and-genotype-between-asian-and-caucasian-patients/