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Hallervorden-Spatz syndrome^*, PANK2, and the tiger’s eyes

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Hallervorden and Spatz reported a rapidly progressive neurodegenerative disease of early onset in a German journal of neurology and psychiatry in 1922. The main clinical features are dystonia, dysarthria and rigidity, rapid progression, and early death. Until recently the diagnosis depended on clinical features and CT or MRI abnormalities in the globus pallidus. Pathologically, there is iron accumulation in the basal ganglia with destruction of the pallidum and substantia nigra. The classic disease is of early onset (infancy or early childhood) and rapidly progressive. Atypical forms present later and progress more slowly.

In 2001 researchers in California and Oregon linked Hallervorden-Spatz syndrome with a defect in the gene (PANK2) on the short arm of chromosome 20 (20p13) encoding the enzyme pantothenate kinase 2 which is important in coenzyme A synthesis. They have now delineated the clinical, genetic, and MRI features (Susan J Hayflick and colleagues. New England Journal . . . [Full text of this article]