PLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.

Abstract

PLA2G6-associated neurodegeneration (PLAN) is a complex heterogenous group of neurodegenerative diseases that results from mutations in a gene known as PLA2G6. PLAN comprises three phenotypes with overlapping clinical and radiologic features: (1) Infantile neuroaxonal dystrophy (INAD), (2) Atypical neuroaxonal dystrophy (ANAD), and (3) PLA2G6-related dystonia-parkinsonism complex (PLAN-DPC). The onset of PLA2G6-related DPC occurs in adulthood, and patients often have normal birth and development. These patients show clinical manifestations of Parkinsonian syndrome, characterized by bradykinesia and tremors with dystonia, in addition to cognitive regression as well as gait instability. Here, we report a case of PLAN-DPC phenotype in a 20-year-old girl. This case report highlights the detection of a novel variant of PLA2G6 gene mutation, c.757G>A, which has an allelic frequency of 0.001% in the gene database.