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@ARTICLE{SprengerSvaina:912540,
      author       = {Sprenger-Svačina, Alina and Haensch, Johannes and Weiss,
                      Kilian and Große Hokamp, Nils and Maintz, David and
                      Schlamann, Marc and Fink, Gereon R. and Schloss, Natalie and
                      Laukamp, Kai and Wunderlich, Gilbert and Lehmann, Helmar C.
                      and Lichtenstein, Thorsten},
      title        = {{MRI} correlates of motoneuron loss in {SMA}},
      journal      = {Journal of neurology},
      volume       = {270},
      number       = {1},
      issn         = {0367-004x},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {FZJ-2022-05713},
      pages        = {503-510},
      year         = {2023},
      abstract     = {BackgroundMagnetic resonance imaging (MRI) is currently
                      explored as supplemental tool to monitor disease progression
                      and treatment response in various neuromuscular disorders.
                      We here assessed the utility of a multi-parametric magnetic
                      resonance imaging (MRI) protocol including quantitative
                      water T2 mapping, Dixon-based proton density fat fraction
                      (PDFF) estimation and diffusion tensor imaging (DTI) to
                      detect loss of spinal motor neurons and subsequent muscle
                      damage in adult SMA patients.MethodsSixteen SMA patients and
                      13 age-matched controls were enrolled in this prospective,
                      longitudinal study. All participants underwent MRI imaging
                      including measurements of Dixon-based PDFF and DTI of the
                      sciatic nerve. SMA patients furthermore underwent
                      measurements of muscle water T2 (T2w) of the biceps femoris
                      muscle (BFM) and quadriceps femoris muscle (QFM). Ten
                      participants returned for a second scan six months later.
                      MRI parameter were correlated with clinical data. All
                      patients were on nusinersen treatment.ResultsThere were
                      significantly higher intramuscular fat fractions in the BFM
                      and QFM of SMA patients compared to healthy controls at
                      baseline and after 6 months. Furthermore, T2 values
                      significantly correlated positively with intramuscular fat
                      fractions. The Hammersmith functional motor scale
                      significantly correlated with the QFM’s intramuscular fat
                      fractions. DTI scans of the sciatic nerve were not
                      significantly different between the two
                      groups.ConclusionThis study demonstrates that, water T2
                      mapping and Dixon-based PDFF estimation may distinguish
                      between adult SMA patients and controls, due to massive
                      intramuscular fat accumulation in SMA. More extensive
                      long-term studies are warranted to further evaluate these
                      two modalities as surrogate markers in SMA patients during
                      treatment.},
      cin          = {INM-3},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406},
      pnm          = {5251 - Multilevel Brain Organization and Variability
                      (POF4-525) / DFG project 431549029 - SFB 1451:
                      Schlüsselmechanismen normaler und krankheitsbedingt
                      gestörter motorischer Kontrolle (431549029)},
      pid          = {G:(DE-HGF)POF4-5251 / G:(GEPRIS)431549029},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {36180649},
      UT           = {WOS:000862218800001},
      doi          = {10.1007/s00415-022-11326-1},
      url          = {https://juser.fz-juelich.de/record/912540},
}