Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.

PLA2G6-associated neurodegeneration (PLAN) is a rare subtype of neurodegeneration with brain iron accumulation (NBIA). It encompasses infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), and dystonia-parkinsonism (DP). This study, one of the largest cohorts from India, reports ten children of Indian origin, their clinical, radiological, and genetic features. Clinical features included global development delay, neuro-regression, ataxia, nystagmus, gait impairment in infantile onset forms and dystonia, behavioral issues and parkinsonism in childhood onset forms. MRI showed cerebellar atrophy as characterized in literature. However, iron deposition patterns characteristic of other NBIA, like ‘eye of the tiger’ sign in PKAN and ‘globus pallidus split sign’ in MPAN were seen in one patient each which is novel to PLAN and not reported before. Treatment was mainly supportive therapy. Levodopa yielded partial benefit in two children. Most patients progressed to severe motor disability.