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@ARTICLE{Faber:155578,
      author       = {Faber, Jennifer and Schaprian, Tamara and Berkan, Koyak and
                      Reetz, Kathrin and França, Marcondes Cavalcante and de
                      Rezende, Thiago Junqueira Ribeiro and Hong, Jiang and Liao,
                      Weihua and van de Warrenburg, Bart and van Gaalen, Judith
                      and Dürr, Alexandra and Mochel, Fanny and Giunti, Paola and
                      Garcia-Moreno, Hector and Schoels, Ludger and Hengel, Holger
                      and Synofzik, Matthis and Bender, Benjamin and Oz, Gulin and
                      Joers, James and de Vries, Jereon J and Kang, Jun-Suk and
                      Timmann-Braun, Dagmar and Jacobi, Heike and Infante, Jon and
                      Joules, Richard and Romanzetti, Sandro and Diedrichsen, Jorn
                      and Schmid, Matthias and Wolz, Robin and Klockgether,
                      Thomas},
      title        = {{R}egional {B}rain and {S}pinal {C}ord {V}olume {L}oss in
                      {S}pinocerebellar {A}taxia {T}ype 3.},
      journal      = {Movement disorders},
      volume       = {36},
      number       = {10},
      issn         = {1531-8257},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2021-00756},
      pages        = {2273-2281},
      year         = {2021},
      abstract     = {Given that new therapeutic options for spinocerebellar
                      ataxias are on the horizon, there is a need for markers that
                      reflect disease-related alterations, in particular, in the
                      preataxic stage, in which clinical scales are lacking
                      sensitivity.The objective of this study was to quantify
                      regional brain volumes and upper cervical spinal cord areas
                      in spinocerebellar ataxia type 3 in vivo across the entire
                      time course of the disease.We applied a brain segmentation
                      approach that included a lobular subsegmentation of the
                      cerebellum to magnetic resonance images of 210 ataxic and 48
                      preataxic spinocerebellar ataxia type 3 mutation carriers
                      and 63 healthy controls. In addition, cervical cord
                      cross-sectional areas were determined at 2 levels.The
                      metrics of cervical spinal cord segments C3 and C2, medulla
                      oblongata, pons, and pallidum, and the cerebellar anterior
                      lobe were reduced in preataxic mutation carriers compared
                      with controls. Those of cervical spinal cord segments C2 and
                      C3, medulla oblongata, pons, midbrain, cerebellar lobules
                      crus II and X, cerebellar white matter, and pallidum were
                      reduced in ataxic compared with nonataxic carriers. Of all
                      metrics studied, pontine volume showed the steepest decline
                      across the disease course. It covaried with ataxia severity,
                      CAG repeat length, and age. The multivariate model derived
                      from this analysis explained $46.33\%$ of the variance of
                      pontine volume.Regional brain and spinal cord tissue loss in
                      spinocerebellar ataxia type 3 starts before ataxia onset.
                      Pontine volume appears to be the most promising imaging
                      biomarker candidate for interventional trials that aim at
                      slowing the progression of spinocerebellar ataxia type 3. ©
                      2021 The Authors. Movement Disorders published by Wiley
                      Periodicals LLC on behalf of International Parkinson and
                      Movement Disorder Society.},
      keywords     = {Brain: diagnostic imaging / Cerebellum / Humans /
                      Machado-Joseph Disease / Spinocerebellar Ataxias: diagnostic
                      imaging / Spinocerebellar Ataxias: genetics / MRI (Other) /
                      biomarker (Other) / spinocerebellar ataxia (Other) /
                      volumetry (Other)},
      cin          = {AG Klockgether / AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      experiment   = {EXP:(DE-2719)ESMI-20140101},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC9521507},
      pubmed       = {pmid:33951232},
      doi          = {10.1002/mds.28610},
      url          = {https://pub.dzne.de/record/155578},
}