<i>PLA2G6</i>-associated Dystonia–Parkinsonism: Case Report and Literature Review

Abstract

<strong>Background:</strong> Phospholipase-associated neurodegeneration (PLAN) caused by <em>PLA2G6</em> mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia– parkinsonism (PLAN-DP). <strong>Case Report:</strong> We report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles. <strong>Discussion:</strong> PLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.