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Pigmentary pallidal degeneration

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

109

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Genes

External Links

  • OMIM

    234200

  • Orphanet

    157850

  • HPO
  • Medgen

    C0018523

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