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    • Brain Iron Accumulation
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    • Syndromes of Neurodegeneration With Brain Iron Accumulation: Influence Statistics

      Expert Impact

      Concepts for whichthey havehas direct influence:Brain iron accumulation,Brain iron,Iron accumulation,Static encephalopathy,Parkinson disease,Neurodegeneration adulthood,Neurodegeneration brain,Clinical findings.

      Key People For Brain Iron Accumulation

      Top KOLs in the world
      #1
      Susan J Hayflick
      brain iron accumulation pantothenate kinase alcohol acceptor
      #2
      Allison M Gregory
      brain iron accumulation pantothenate kinase globus pallidus
      #3
      Nardo Nardocci
      movement disorders brain iron accumulation primary dystonia
      #4
      Shawn K Westaway
      pantothenate kinase trna ligase pank2 gene
      #5
      Jane M Gitschier
      factor viii menkes disease absolute pitch
      #6
      Khailash P Bhatia
      movement disorders cervical dystonia parkinson disease

      Syndromes of Neurodegeneration With Brain Iron Accumulation

      Abstract

      In parallel to recent developments of genetic techniques, understanding of the syndromes of neurodegeneration with brain iron accumulation has grown considerably. The acknowledged clinical spectrum continues to broaden, with age-dependent presentations being recognized. Postmortem brain examination of genetically confirmed cases has demonstrated Lewy bodies and/or tangles in some forms, bridging the gap to more common neurodegenerative disorders, including Parkinson disease. In this review, the major forms of neurodegeneration with brain iron accumulation (NBIA) are summarized, concentrating on clinical findings and molecular insights. In addition to pantothenate kinase-associated neurodegeneration (PKAN) and phospholipase A2-associated neurodegeneration (PLAN), fatty acid hydroxylase-associated neurodegeneration (FAHN) NBIA, mitochondrial protein-associated neurodegeneration, Kufor-Rakeb disease, aceruloplasminemia, neuroferritinopathy, and SENDA syndrome (static encephalopathy of childhood with neurodegeneration in adulthood) are discussed.

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