Teresa Gerhalter1, Benjamin Marty2,3, Lena V Gast4,5, Katharina Porzelt6, Rafael Heiss4, Michael Uder4, Stefan Schwab6, Pierre G Carlier2,3, Armin M Nagel4,7,5, Matthias Türk6. 1. Institute of Radiology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Maximiliansplatz 3, 91054, Erlangen, Germany. teresagerhalter@gmx.at. 2. NMR Laboratory, Institute of Myology, Paris, France. 3. NMR Laboratory, CEA/DRF, IBFJ/MIRCen, Paris, France. 4. Institute of Radiology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Maximiliansplatz 3, 91054, Erlangen, Germany. 5. Institute of Medical Physics, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany. 6. Department of Neurology, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany. 7. Division of Medical Physics in Radiology, German Cancer Research Centre, Heidelberg, Germany.
Abstract
OBJECTIVE: Our aim was to assess the role of quantitative 1H and 23Na MRI methods in providing imaging biomarkers of disease activity and severity in patients with Facioscapulohumeral muscular dystrophy (FSHD). METHODS: We imaged the lower leg muscles of 19 FSHD patients and 12 controls with a multimodal MRI protocol to obtain STIR-T2w images, fat fraction (FF), water T2 (wT2), water T1 (wT1), tissue sodium concentration (TSC), and intracellular-weighted sodium signal (inversion recovery (IR) and triple quantum filter (TQF) sequence). In addition, the FSHD patients underwent muscle strength testing. RESULTS: Imaging biomarkers related with water mobility (wT1 and wT2) and ion homeostasis (TSC, IR, TQF) were increased in muscles of FSHD patients. Muscle groups with FF > 10% had higher wT2, wT1, TSC, IR, and TQF values than muscles with FF < 10%. Muscles with FF < 10% resembled muscles of healthy controls for these MRI disease activity measures. However, wT1 was increased in few muscles without fat replacement. Furthermore, few STIR-negative muscles (n = 11/76) exhibited increased wT1, TSC, IR or TQF. Increased wT1 as well as 23Na signals were also present in muscles with normal wT2. Muscle strength was related to the mean FF and all imaging biomarkers of tibialis anterior except wT2 were correlated with dorsal flexion. CONCLUSION: The newly evaluated imaging biomarkers related with water mobility (wT1) and ion homeostasis (TSC, IR, TQF) showed different patterns compared to the established markers like FF in muscles of FSHD patients. These quantitative biomarkers could thus contain valuable complementary information for the early characterization of disease progression.
OBJECTIVE: Our aim was to assess the role of quantitative 1H and 23Na MRI methods in providing imaging biomarkers of disease activity and severity in patients with Facioscapulohumeral muscular dystrophy (FSHD). METHODS: We imaged the lower leg muscles of 19 FSHDpatients and 12 controls with a multimodal MRI protocol to obtain STIR-T2w images, fat fraction (FF), water T2 (wT2), water T1 (wT1), tissue sodium concentration (TSC), and intracellular-weighted sodium signal (inversion recovery (IR) and triple quantum filter (TQF) sequence). In addition, the FSHDpatients underwent muscle strength testing. RESULTS: Imaging biomarkers related with water mobility (wT1 and wT2) and ion homeostasis (TSC, IR, TQF) were increased in muscles of FSHDpatients. Muscle groups with FF > 10% had higher wT2, wT1, TSC, IR, and TQF values than muscles with FF < 10%. Muscles with FF < 10% resembled muscles of healthy controls for these MRI disease activity measures. However, wT1 was increased in few muscles without fat replacement. Furthermore, few STIR-negative muscles (n = 11/76) exhibited increased wT1, TSC, IR or TQF. Increased wT1 as well as 23Na signals were also present in muscles with normal wT2. Muscle strength was related to the mean FF and all imaging biomarkers of tibialis anterior except wT2 were correlated with dorsal flexion. CONCLUSION: The newly evaluated imaging biomarkers related with water mobility (wT1) and ion homeostasis (TSC, IR, TQF) showed different patterns compared to the established markers like FF in muscles of FSHDpatients. These quantitative biomarkers could thus contain valuable complementary information for the early characterization of disease progression.
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