Neurodegeneration with brain iron accumulation: from genes to pathogenesis.

  • S J Hayflick
  • Published 2006 in Seminars in pediatric neurology


Neurodegeneration with brain iron accumulation comprises a clinically and genetically heterogeneous collection of disorders that share key features. These include progressive neurological disease accompanied by high basal ganglia iron and axonal dystrophy. To date, 2 genetic forms have been associated with mutations in PANK2 and PLA2G6, both of which encode… (More)