0
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

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

      research-article
      * , , , § ,
      International review of neurobiology

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          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.

          Related collections

          Author and article information

          Journal
          0374740
          4354
          Int Rev Neurobiol
          Int. Rev. Neurobiol.
          International review of neurobiology
          0074-7742
          2162-5514
          13 April 2018
          2013
          25 July 2018
          : 110
          : 49-71
          Affiliations
          [* ]Neurosciences Unit, UCL-Institute of Child Health, London, United Kingdom
          []Department of Neurology, Great Ormond Street Hospital, London, United Kingdom
          []Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA
          [§ ]Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA
          []Department of Neurology, Oregon Health & Science University, Portland, OR, USA
          Author notes
          [1 ]Corresponding author: manju.kurian@ 123456ucl.ac.uk
          Article
          PMC6059649 PMC6059649 6059649 nihpa959188
          10.1016/B978-0-12-410502-7.00003-X
          6059649
          24209433
          d929d877-b18b-496d-a1b4-49c7cf331d20
          History
          Categories
          Article

          Comments

          Comment on this article