Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN). Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes

Manju A. Kurian, Susan Hayflick

Research output: Contribution to journalArticle

42 Scopus citations

Abstract

Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders characterized by the presence of radiologically discernible high brain iron, particularly within the basal ganglia. A number of childhood NBIA syndromes are described, of which two of the major subtypes are pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN). PKAN and PLAN are autosomal recessive NBIA disorders due to mutations in PANK2 and PLA2G6, respectively. Presentation is usually in childhood, with features of neurological regression and motor dysfunction. In both PKAN and PLAN, a number of classical and atypical phenotypes are reported. In this chapter, we describe the clinical, radiological, and genetic features of these two disorders and also discuss the pathophysiological mechanisms postulated to play a role in disease pathogenesis.

Original languageEnglish (US)
Pages (from-to)49-71
Number of pages23
JournalInternational Review of Neurobiology
Volume110
DOIs
Publication statusPublished - 2013

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Keywords

  • Neurodegeneration with brain iron accumulation (NBIA)
  • PANK2
  • PLA2G6

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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