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Publication Detail
Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Kruer MC, Paudel R, Wagoner W, Sanford L, Kara E, Gregory A, Foltynie T, Lees A, Bhatia K, Hardy J, Hayflick SJ, Houlden H
  • Publication date:
    08/08/2012
  • Pagination:
    35, 38
  • Journal:
    Neuroscience Letters
  • Volume:
    523
  • Issue:
    1
  • Status:
    Published
  • Print ISSN:
    0304-3940
Abstract
Several causative genes have been identified for both dystonia-parkinsonism and neurodegeneration with brain iron accumulation (NBIA), yet many patients do not have mutations in any of the known genes. Mutations in the . ATP13A2 lead to Kufor Rakeb disease, a form of autosomal recessive juvenile parkinsonism that also features oromandibular dystonia. More recently, evidence of iron deposition in the caudate and putamen have been reported in patients with . ATP13A2 mutations. We set out to determine the frequency of . ATP13A2 mutations in cohorts of idiopathic NBIA and dystonia-parkinsonism. We screened for large deletions using whole genome arrays, and sequenced the entire coding region in 92 cases of NBIA and 76 cases of dystonia-parkinsonism. A number of coding and non-coding sequence variants were identified in a heterozygous state, but none were predicted to be pathogenic based on . in silico analyses. Our results indicate that . ATP13A2 mutations are a rare cause of both NBIA and dystonia-parkinsonism. © 2012 Elsevier Ireland Ltd.
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Clinical and Movement Neurosciences
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Clinical and Movement Neurosciences
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Neurodegenerative Diseases
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Department of Neuromuscular Diseases
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