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@ARTICLE{Reetz:20071,
      author       = {Reetz, K. and Kleinman, A. and Klein, C. and Lencer, R. and
                      Zuehlke, C. and Brockmann, K. and Rolfs, A. and Binkofski,
                      F.},
      title        = {{CAG} repeats determine brain atrophy in spinocerebellar
                      ataxia 17: a {VBM} study},
      journal      = {PLoS one},
      volume       = {6},
      issn         = {1932-6203},
      address      = {Lawrence, Kan.},
      publisher    = {PLoS},
      reportid     = {PreJuSER-20071},
      pages        = {e15125},
      year         = {2011},
      note         = {KR was funded by the DFG Translational Brain Research in
                      Psychiatry and Neurology (DFG ZUK32/1). The funders had no
                      role in study design, data collection and analysis, decision
                      to publish, or preparation of the manuscript.},
      abstract     = {Abnormal repeat length has been associated with an earlier
                      age of onset and more severe disease progression in the rare
                      neurodegenerative disorder spinocerebellar ataxia 17
                      (SCA17).To determine whether specific structural brain
                      degeneration and rate of disease progression in SCA17 might
                      be associated with the CAG repeat size, observer-independent
                      voxel-based morphometry was applied to high-resolution
                      magnetic resonance images of 16 patients with SCA17 and 16
                      age-matched healthy controls. The main finding contrasting
                      SCA17 patients with healthy controls demonstrated atrophy in
                      the cerebellum bilaterally. Multiple regression analyses
                      with available genetic data and also post-hoc correlations
                      revealed an inverse relationship again with cerebellar
                      atrophy. Moreover, we found an inverse relationship between
                      the CAG repeat length and rate of disease progression.Our
                      results highlight the fundamental role of the cerebellum in
                      this neurodegenerative disease and support the
                      genotype-phenotype relationship in SCA17 patients. Genetic
                      factors may determine individual susceptibility to
                      neurodegeneration and rate of disease progression.},
      keywords     = {Adult / Age of Onset / Atrophy: genetics / Atrophy:
                      metabolism / Brain: pathology / Case-Control Studies /
                      Cerebellum: pathology / Disease Progression / Female /
                      Humans / Magnetic Resonance Imaging / Male / Middle Aged /
                      Nerve Degeneration: genetics / Spinocerebellar Ataxias:
                      genetics / Spinocerebellar Ataxias: pathology /
                      Trinucleotide Repeats / J (WoSType)},
      cin          = {INM-4},
      ddc          = {500},
      cid          = {I:(DE-Juel1)INM-4-20090406},
      pnm          = {Neurowissenschaften},
      pid          = {G:(DE-Juel1)FUEK255},
      shelfmark    = {Biology},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:21311576},
      pmc          = {pmc:PMC3023761},
      UT           = {WOS:000286520600008},
      doi          = {10.1371/journal.pone.0015125},
      url          = {https://juser.fz-juelich.de/record/20071},
}