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

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 hav