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GENATLAS PHENOTYPE
last update : 26-10-2016
Symbol PKAN
Location 20p13
Name pantothenate kinase-associated neurodegeneration
Other name(s)
  • Hallervorden-Spatz disease
  • neuroaxonal dystrophy, juvenile-onset
  • neurodegeneration with brain iron accumulation 1
    • Corresponding gene PANK2
    Other symbol(s) HSS, NBIA1
    Main clinical features
  • dystonia, dysarthria and rigidity in childhood, retinis pigmentosa, Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits, acanthocytosis in 8p.cent of cases, iron deposited in the basal ganglia
  • classical form leads to early death
  • at the MRI, pallidal abnormalities with decreased signal intensity in T2-weighted images, compatible with iron deposits, and small area of hyperintensity in its internal segment ('eye of the tiger' sign)
  • differential diagnosis of patients presenting with young-onset parkinsonism (PMID: 20076801))
    • Genetic determination autosomal recessive
    Related entries HARP syndrome, variant observed in 1 case (see HARP Omim 607236)
    Function/system disorder eye
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     G521R mostliy frequent mutation
    Remark(s)
  • in basal conditions, PKAN fibroblasts show an increase in carbonylated proteins and altered expression of antioxidant enzymes with respect to the controls; after iron supplementation, the PKAN fibroblasts had a defective response to the additional iron and PANK2 deficiency promotes likely an increased oxidative status that is further enhanced by the addition of iron, potentially causing damage in cells (PMID: 22692681))
  • PANK2 malfunctioning is responsible for abnormal phenotypes in human neuronal cells and indicate CoA treatment as a possible therapeutic intervention (PMID: 27516453))