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@ARTICLE{Kessler:284656,
      author       = {T. Kessler$^*$ and G. Sam and W. Wick$^*$ and M. Weiler},
      title        = {{E}valuation of risdiplam efficacy in 5q spinal muscular
                      atrophy: {A} systematic comparison of electrophysiologic
                      with clinical outcome measures.},
      journal      = {European journal of neurology},
      volume       = {31},
      number       = {1},
      issn         = {1351-5101},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2023-02057},
      pages        = {e16099},
      year         = {2024},
      note         = {#EA:B320# / 2024 Jan;31(1):e16099},
      abstract     = {To assess compound muscle action potential (CMAP)
                      amplitudes as electrophysiologic markers in relation to
                      clinical outcome in adult patients with 5q-linked spinal
                      muscular atrophy (SMA) before and during treatment with
                      risdiplam.In this monocentric longitudinal cohort study,
                      CMAP of 18 adult patients with SMA type 2 or 3 were assessed
                      at baseline (T0 ) and after 10 months (T10 ) of risdiplam
                      treatment. CMAP amplitudes of the median, ulnar, peroneal,
                      and tibial nerves were compared with established clinical
                      outcome scores, and with the course of disease before start
                      of treatment.During a pharmacotherapy-naive pre-treatment
                      period of 328 ± 46 days, Revised Upper Limb Module (RULM)
                      score and peroneal nerve CMAP amplitudes decreased, while
                      CMAP of tibial and upper limb nerves remained unchanged.
                      CMAP amplitudes positively correlated with clinical scores
                      (Hammersmith Functional Motor Scale-Expanded [HFMSE], RULM)
                      at T0 . During risdiplam treatment, HFMSE and Children's
                      Hospital of Philadelphia Infant Test of Neuromuscular
                      Disorders (CHOP INTEND) scores increased, paralleled by
                      marked increase of CMAP amplitudes in both median nerves
                      (T10 -T0 ; right: Δ = 1.4 ± 1.4 mV, p = 0.0003; left: Δ =
                      1.3 ± 1.4 mV, p = 0.0007), but not in ulnar, peroneal, or
                      tibial nerves. A robust increase of median nerve CMAP
                      amplitudes correlated well with an increase in the HFMSE
                      score (T10 -T0 ). Median nerve CMAP amplitudes at T0 were
                      associated with subsequent risdiplam-related improvement of
                      HFMSE and CHOP INTEND scores at T10 .Median nerve CMAP
                      amplitudes increase with risdiplam treatment in adult SMA
                      patients, and should be further evaluated as potential
                      easy-to-use electrophysiologic markers in assessing and
                      monitoring clinical response to therapy.},
      keywords     = {compound muscle action potential (CMAP) (Other) /
                      electrophysiology (Other) / neurodegeneration (Other) /
                      risdiplam (Other) / spinal muscular atrophy (SMA) (Other)},
      cin          = {B320 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B320-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37823715},
      doi          = {10.1111/ene.16099},
      url          = {https://inrepo02.dkfz.de/record/284656},
}