Case Report: Where is the boundary between autosomal recessive early-onset Parkinson's disease and dystonia-parkinsonism: a case of PLA2G6-associated neurodegeneration.

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BackgroundMutations in the PLA2G6 gene cause a spectrum of neurodegenerative disorders, with autosomal recessive early-onset Parkinson's disease (AREP) and dystonia-parkinsonism (DP) representing the two primary subtypes of adult-onset PLA2G6-associated neurodegeneration (PLAN).Case presentationWe report a Chinese female patient with parkinsonism caused by compound heterozygous mutations in the PLA2G6 gene. Both variants she carried-c.313G > T (p. D105Y) and c.23 T > A (p. V8D)-are novel and have not been previously reported. The patient presented with prominent parkinsonism in the upper body that responded well to dopaminergic therapy, while the lower limbs exhibited combined dystonia and a scissoring gait with poor response to dopaminergic medication. Based on the distinctive features of our case and literature review, we suggest that the traditional AREP/DP dichotomy may not fully capture the phenotypic complexity observed in PLA2G6-associated parkinsonism.ConclusionThis case highlights the clinical heterogeneity of PLAN and expands its genotypic spectrum with two novel mutations, suggesting that PLA2G6-related disorders may present with overlapping features of AREP and DP within the same individual.

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