PKAN

PKAN, Pantothenic Kinase-Associated Neurodegeneration, is one of the most common forms of NBIA caused by mutations in the PANK2 gene. PKAN represents 35% to 35% of the NBIA population. The PANK2 gene provides the instruction for the manufacture of an enzyme called pantothenate kinase. Current research is investigating how this missing enzyme can damage nerve cells and contribute to the characteristic accumulation of iron in the brain.

PKAN is generally separated into classical and atypical forms, depending on the age of onset of the disease and the rate of progression. The characteristics of the disease in some people place them between these two categories.

Symptoms vary according to these two forms, so there is a wide range of symptoms.

  • Classic PKAN
    • A more rapid progression of symptoms that appear before the age of 6 years, on average around the age of 3 years.
  • Atypical PKAN
    • In most cases, a slow progression over several years, even decades. Symptoms are more variable and appear later than those of classic PKAN.

Children with PKAN usually have gait problems around the age of 3 years and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs.

People with atypical or late PKAN are likely to have speech disorders and more frequently psychiatric symptoms.

Retinal degeneration is common, especially in patients with classical PKAN.