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Publication Detail
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP
  • Publication date:
    15/06/2010
  • Pagination:
    979, 984
  • Journal:
    Mov Disord
  • Volume:
    25
  • Issue:
    8
  • Status:
    Published
  • Country:
    United States
  • Language:
    eng
  • Keywords:
    Adult, Brain, Humans, Iron, Magnetic Resonance Imaging, Male, Mutation, Nerve Degeneration, Proton-Translocating ATPases
Abstract
Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3.
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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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Clinical and Movement Neurosciences
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UCL Queen Square Institute of Neurology
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