Oculogyric crises induced by levodopa in PLA2G6 parkinsonism-dystonia

摘要

PLA2G6 mutations are associated with infantile neuroaxonaldystrophy (INAD), neurodegeneration with brain iron accumulation(NBIA) and adult onset dystonia-parkinsonism [1]. In the latter, patientstypically present in the second to fourth decades with rapidlyprogressive parkinsonism [2]. Cognitive impairment and psychiatricfeatures can be significant presenting features [1]. Supranucleargaze palsy, dystonia and spasticity may also be present. Parkinsonismmay have a dramatic although transient response to levodopa,but dyskinesia may develop [1]. MRI of the brain oftendemonstrates generalized cerebral atrophy without basal gangliairon deposition [1]. A milder phenotype of slowly progressiveparkinsonism without complicating features has also beendescribed [2].