PANK2

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The PANK2 gene at 20p13 codes for the 570 amino acid pro-peptide to pantothenate kinase 2, mitochondrial. There are 4 isoforms. Pantothenic acid kinase 2 catalyses the first step in coenzyme A biosynthesis:

ATP + (R)-pantothenate => ADP + (R)-4-phosphopantothenate.

Mutations of PANK2 are a cause of pantothenate kinase associated neurodegeneration(PKAN) with brain iron accumulation which manifests as neuroacanthocytosis and on cerebral MRI the "eye of the tiger" sign. Presentation is:

  • Childhood orofacial and limb dystonia if gene afunctional
    • Adult onset usually have PANK2 missense mutations
  • Progressive choreoathetosis and spasticity.
  • Palilalia or dysarthria common
  • Pigmentary retinopathy in most
  • Cognitive impairment in a third.
  • Acanthocytosis in less than 10%
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