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@ARTICLE{Arpin:281371,
      author       = {Arpin, David J and Subramony, S. H. and Vaillancourt, David
                      E and Ashizawa, Tetsuo and Durr, Alexandra and Mareci,
                      Thomas and Klockgether, Thomas and Faber, Jennifer and
                      Paulson, Henry L and Öz, Gülin and Burns, Matthew R},
      collaboration = {Consortium, READISCA},
      title        = {{F}ixel-{B}ased {A}nalysis of {D}iffusion {I}maging as a
                      {Q}uantitative {M}arker of {D}isease {S}tate in
                      {S}pinocerebellar {A}taxia.},
      journal      = {Annals of Clinical and Translational Neurology},
      volume       = {12},
      number       = {9},
      issn         = {2328-9503},
      address      = {Chichester [u.a.]},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-01118},
      pages        = {1846 - 1857},
      year         = {2025},
      abstract     = {Spinocerebellar ataxias (SCAs) are a group of genetically
                      heterogeneous neurodegenerative diseases causing progressive
                      deterioration and reduced quality of life. Therapeutic
                      advances have been limited by a lack of sensitive anatomic,
                      functional, or diffusion imaging-based biomarkers. This
                      study aimed to identify white matter differences in the
                      brains of preataxic and early-stage SCA1 and SCA3 mutation
                      carriers using diffusion magnetic resonance imaging data
                      from a multisite trial setting.Fixel-based analysis was used
                      to estimate microscopic fiber density, macroscopic
                      fiber-bundle cross-section, and a combined fiber density and
                      fiber-bundle cross-section measure within 45 cerebral and
                      cerebellar tracts. Multivariate ANOVAs compared controls (n
                      = 16), pre-ataxic (n = 10 SCA1, n = 24 SCA3), and ataxic
                      patients (n = 14 SCA1, n = 36 SCA3). Clinical variables were
                      correlated with fixel metrics and receiver operating
                      characteristic analyses identified white matter tracts
                      sensitive to distinguishing controls from pre-ataxic SCA1
                      and SCA3.We found widespread white matter deficits in
                      pre-ataxic and ataxic patients compared to controls with
                      regard to fiber density, fiber-bundle cross-section, and
                      combined measures, all of which were associated with
                      clinical measures of ataxia severity. We also found the
                      combined fiber density and fiber-bundle cross-section
                      measure from cerebellar tracts distinguished controls from
                      pre-ataxia with high sensitivity and specificity for both
                      SCA1 (receiver operating characteristic area under the curve
                      = 0.96) and SCA3 (area under the curve = 0.97). The receiver
                      operating characteristic analyses revealed that cerebellar
                      tracts resulted in greater area under the curve than
                      cortico-spinal and transcallosal tracts.These results
                      demonstrate that fixel metrics offer sensitive
                      disease-specific measures of early SCA disease state that
                      correlate with standard clinical measures.Clinical Trial
                      Readiness for SCA1 and SCA3 (READISCA), NCT03487367.
                      https://clinicaltrials.gov/ct2/show/NCT03487367.},
      keywords     = {early‐stage SCA (Other) / neurodegeneration (Other) /
                      white matter (Other)},
      cin          = {Patient Studies (Bonn) / Clinical Research (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011101 / I:(DE-2719)1011001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40665587},
      doi          = {10.1002/acn3.70116},
      url          = {https://pub.dzne.de/record/281371},
}