Tremor‐Dominant Pantothenate Kinase‐associated Neurodegeneration

View Supplementary Video1 View Supplementary Video2 View Supplementary Video3 Neurodegeneration with brain iron accumulation ( NBIA ) includes a rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase‐associated neurodegeneration ( PKAN ) is the most common NBIA and has 2 main presentations: typical and atypical, the latter rarely presents with tremor. Our reported patients underwent full neurologic examination, standard brain magnetic imaging, and genetic testing for PKAN . Three patients who had “tremor‐dominant” PKAN with a relatively benign course were reported, including 1 with dystonic tremor and 2 with parkinsonian tremor. All 3 patients had homozygous mutations in the PANK 2 gene and typical eye of the tiger sign on brain imaging. PKAN (and NBIA in general) may be a potential cause of tremor, thus emphasizing the need to consider this diagnosis even in patients with a clinical diagnosis of essential, dystonic, or parkinsonian tremor.