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GTR Home > Conditions/Phenotypes > Pigmentary pallidal degeneration

Summary

Excerpted from the GeneReview: Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by 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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