Hallervorden-Spatz Syndrome

Hallervorden-Spatz syndrome or pantothenate kinase associated neurodegeneration is an autosomal recessive neurodegenerative disorder affecting both children and adults. The phenotypic spectrum ranges from severe, early childhood dystonia with pigmentary retinopathy to adult-onset dysarthria, dystonia, and rigidity. Brain magnetic resonance imaging (MRI) changes are virtually pathognomonic, demonstrating bilateral areas of anteromedial hyperintensity surrounded by a region of hypointensity in the medial globus pallidus on T2-weighted images, These radiographic changes indicate deposition of iron in the basal ganglia, which is seen on pathologic study in association with axonal spheroids. The defective gene encodes pantothenate kinase, a key regulatory enzyme in the biosynthesis of coenzyme A. A Drosophila pantothenate kinase mutant shows neurologic incoordination and cell division cycle defects. A murine model, currently being developed, can facilitate the investigation of disease pathogenesis and new treatments.