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Video NeuroImage: Stereotypic Motor Behaviors in a Patient With Pantothenate Kinase–Associated Neurodegeneration

A 24-year-old woman with pantothenate kinase–associated neurodegeneration (PKAN) presented with a 5-year history of psychiatric symptoms followed by prominent stereotypic motor behaviors, including repetitive touching of her mouth and leg, object manipulation, and tip-toe walking (Video 1). Examination revealed severe depression and anxiety, mild speech dysfluency, and the stereotypic movements. Previous symptomatic treatments provided limited benefit. Brain magnetic resonance imaging demonstrated the pathognomonic “eye-of-the-tiger” sign, indicative of iron deposition in the bilateral globus pallidus (Figure). Genetic testing identified compound heterozygous variants in the PANK2 gene: a known pathogenic variant (c.401AG) and a novel likely pathogenic variant (c.1465CG).

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