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    • Brain Iron Accumulation
    • Analysis Of The C19orf12...
    • Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation: Influence Statistics

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      Concepts for whichthey havehas direct influence:Brain iron accumulation,Wdr45 gene,Brain iron,Iron accumulation,C19orf12 gene,Childhood neurodegeneration,Wdr45 mutations,Neurodegeneration brain.

      Key People For Brain Iron Accumulation

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      #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
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      Khailash P Bhatia
      movement disorders cervical dystonia parkinson disease

      Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

      Abstract

      BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of diseases presenting with movement disorders and brain iron deposits. In addition to NBIA subtypes caused by mutations in PANK2 and PLA2G6, mutations in the C19orf12 gene were recently described as the third frequent cause of NBIA (called mitochondrial membrane protein-associated neurodegeneration, MPAN). Additionally, the X-linked gene WDR45 was found causative for a special subtype named static encephalopathy in childhood with neurodegeneration in adulthood (also called BPAN); however, analysis of this gene in a broader spectrum of NBIA has not been reported yet.

      METHODS: In a heterogeneous cohort of 69 patients with suspected NBIA that did not carry mutations in PANK2 and PLA2G6, the coding region of C19orf12 was evaluated by Sanger sequencing. The WDR45 gene was analyzed via high resolution melting and subsequent sequence analysis.

      RESULTS: Previously described homozygous C19orf12 mutations were found in 3/69 NBIA patients (4.3%). Analysis of the WDR45 gene revealed a novel heterozygous missense mutation in one female NBIA patient showing psychomotor retardation with secondary decline.

      CONCLUSIONS: C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood.

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