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Abstract:
Magnetic resonance imaging (MRI) findings in PLA2G6-associated Neurodegeneration (PLAN), a “Neurodegeneration with Brain Iron Accumulation” (NBIA) disorder caused by autosomal-recessive mutations in the PLA2G6 gene,1 have been reported to show varying degrees of cerebral and cerebellar atrophy as well as basal ganglia iron deposition on susceptibility-weighted imaging (SWI), although some patients do not show any of these imaging features despite genetically proven PLAN.
