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Excerpted from the GeneReview: Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is a form of neurodegeneration with brain iron accumulation, or NBIA (formerly called Hallervorden-Spatz syndrome). PKAN is characterized by progressive dystonia and basal ganglia iron deposition with onset that usually occurs before age ten years. Commonly associated features include dysarthria, rigidity, and pigmentary retinopathy. Approximately 25% of affected individuals have an 'atypical' presentation with later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.

Genes See tests for all associated and related genes

  • Also known as: C20orf48, HARP, HSS, NBIA1, PKAN, PANK2
    Summary: pantothenate kinase 2

Clinical features


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