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@ARTICLE{Jacobi:300134,
      author       = {H. Jacobi and M. Weiler and G. Sam and S. Heiland and J. M.
                      Hayes and M. Bendszus and W. Wick$^*$ and J. C. Hayes},
      title        = {{P}eripheral {N}erve {I}nvolvement in {F}riedreich's
                      {A}taxia {C}haracterized by {Q}uantitative {M}agnetic
                      {R}esonance {N}eurography.},
      journal      = {European journal of neurology},
      volume       = {32},
      number       = {3},
      issn         = {1351-5101},
      address      = {Oxford [u.a.]},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2025-00631},
      pages        = {e70121},
      year         = {2025},
      abstract     = {Friedreich's ataxia (FRDA) affects both the central and
                      peripheral nervous system. Peripheral nerve involvement
                      manifests predominantly as a progressive sensory neuropathy
                      caused by dorsal root ganglionopathy. An additional direct
                      involvement of peripheral nerves leading to abnormal
                      myelination is increasingly discussed. Here, we characterize
                      lower extremity peripheral nerve involvement in FRDA by
                      quantitative magnetic resonance neurography (MRN).Sixteen
                      genetically confirmed FRDA patients and 16 age-/sex-matched
                      controls were prospectively enrolled. Patients underwent
                      neurologic examinations and nerve conduction studies (NCS).
                      Large-coverage MRN of sciatic and tibial nerves was
                      conducted utilizing dual-echo turbo-spin-echo sequences with
                      spectral fat saturation for T2-relaxometry, and two
                      gradient-echo sequences with and without off-resonance
                      saturation rapid frequency pulses for magnetization transfer
                      contrast imaging. Microstructural and morphometric MRN
                      markers including T2-relaxation time (T2app), proton spin
                      density (ρ), magnetization transfer ratio (MTR), and
                      cross-sectional area (CSA) were calculated to characterize
                      nerve lesions.Tibial nerve ρ and T2app were markedly
                      decreased in FRDA at the thigh (ρ: 368.4 ± 11.0 a.u.;
                      T2app: 59.5 ± 1.8 ms) and lower leg (ρ: 337.3 ± 12.6
                      a.u.; T2app: 53.9 ± 1.4 ms) versus controls (thigh, ρ:
                      458.9 ± 9.5 a.u., p < 0.0001; T2app: 66.3 ± 0.8 ms, p =
                      0.0019; lower leg, ρ: 449.9 ± 12.1 a.u., p < 0.0001;
                      T2app: 62.4 ± 1.2 ms, p < 0.0001) and correlated well with
                      clinical scores, disease duration, and NCS. MTR and CSA did
                      not differentiate between FRDA and controls.Our study
                      results provide a profound characterization of peripheral
                      nerve involvement in FRDA. The identified good correlation
                      between ρ and T2app with clinical symptom scores and NCS
                      suggests that parameters of T2 relaxometry may become
                      relevant biomarkers to monitor disease progression and
                      therapeutic responses in potential future clinical trials.},
      keywords     = {Humans / Friedreich Ataxia: diagnostic imaging / Friedreich
                      Ataxia: pathology / Male / Adult / Female / Magnetic
                      Resonance Imaging / Young Adult / Neural Conduction:
                      physiology / Middle Aged / Adolescent / Peripheral Nervous
                      System Diseases: diagnostic imaging / Peripheral Nervous
                      System Diseases: pathology / Peripheral Nervous System
                      Diseases: etiology / Peripheral Nerves: diagnostic imaging /
                      Peripheral Nerves: pathology / Tibial Nerve: diagnostic
                      imaging / Tibial Nerve: physiopathology / Tibial Nerve:
                      pathology / Prospective Studies / Friedreichs ataxia (Other)
                      / T2 relaxometry (Other) / electrophysiology (Other) /
                      magnetic resonance neurography (MRN) (Other) / magnetization
                      transfer contrast imaging (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:40130461},
      doi          = {DOI:10.1111/ene.70121},
      url          = {https://inrepo02.dkfz.de/record/300134},
}