Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

Michael C. Kruer, Reema Paudel, Wendy Wagoner, Lynn Sanford, Eleanna Kara, Allison Gregory, Tom Foltynie, Andrew Lees, Kailash Bhatia, John Hardy, Susan J. Hayflick, Henry Houlden

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)35-38
Number of pages4
JournalNeuroscience Letters
Volume523
Issue number1
DOIs
StatePublished - Aug 8 2012

Keywords

  • Iron
  • Kufor Rakeb, ATP13A2, Dystonia
  • NBIA
  • Neurodegeneration
  • Parkinsonism

ASJC Scopus subject areas

  • Neuroscience(all)

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