Jennifer Kollmer1, Tim Hilgenfeld2, Andreas Ziegler2, Afshin Saffari2, Georges Sam2, John M Hayes2, Adriana Pietsch2, Marie Jost2, Sabine Heiland2, Martin Bendszus2, Wolfgang Wick2, Markus Weiler1. 1. From the Department of Neuroradiology (J.K., T.H., A.P., M.J., S.H., M.B.), Division of Child Neurology and Metabolic Medicine (A.Z., A.S.), Center for Child and Adolescent Medicine, Department of Neurology (G.S., W.W., M.W.), and Department of Neuroradiology (S.H.), Division of Experimental Radiology, Heidelberg University Hospital, Germany; Department of Neurology (J.M.H.), University of Michigan, Ann Arbor; Medical Faculty (M.J.), University of Tübingen; and German Cancer Consortium (DKTK) within the German Cancer Research Center (DKFZ) (W.W.), Heidelberg, Germany. markus.weiler@med.uni-heidelberg.de jennifer.kollmer@med.uni-heidelberg.de. 2. From the Department of Neuroradiology (J.K., T.H., A.P., M.J., S.H., M.B.), Division of Child Neurology and Metabolic Medicine (A.Z., A.S.), Center for Child and Adolescent Medicine, Department of Neurology (G.S., W.W., M.W.), and Department of Neuroradiology (S.H.), Division of Experimental Radiology, Heidelberg University Hospital, Germany; Department of Neurology (J.M.H.), University of Michigan, Ann Arbor; Medical Faculty (M.J.), University of Tübingen; and German Cancer Consortium (DKTK) within the German Cancer Research Center (DKFZ) (W.W.), Heidelberg, Germany.
Abstract
OBJECTIVE: To characterize and quantify peripheral nerve lesions and muscle degeneration in clinically, genetically, and electrophysiologically well-classified, nonpediatric patients with 5q-linked spinal muscular atrophy (SMA) by high-resolution magnetic resonance neurography (MRN). METHODS: Thirty-one adult patients with genetically confirmed 5q-linked SMA types II, IIIa, and IIIb and 31 age- and sex-matched healthy volunteers were prospectively investigated. All patients received neurologic, physiotherapeutic, and electrophysiologic assessments. MRN at 3.0T with anatomic coverage from the lumbosacral plexus and proximal thigh down to the tibiotalar joint was performed with dual-echo 2D relaxometry sequences with spectral fat saturation and a 3D T2-weighted inversion recovery sequence. Detailed quantification of nerve injury by morphometric and microstructural MRN markers and qualitative classification of fatty muscle degeneration were conducted. RESULTS: Established clinical scores and compound muscle action potentials discriminated well between the 3 SMA types. MRN revealed that peroneal and tibial nerve cross-sectional area (CSA) at the thigh and lower leg level as well as spinal nerve CSA were markedly decreased throughout all 3 groups, indicating severe generalized peripheral nerve atrophy. While peroneal and tibial nerve T2 relaxation time was distinctly increased at all analyzed anatomic regions, the proton spin density was clearly decreased. Marked differences in fatty muscle degeneration were found between the 3 groups and for all analyzed compartments. CONCLUSIONS: MRN detects and quantifies peripheral nerve involvement in SMA types II, IIIa, and IIIb with high sensitivity in vivo. Quantitative MRN parameters (T2 relaxation time, proton spin density, CSA) might serve as novel imaging biomarkers in SMA to indicate early microstructural nerve tissue changes in response to treatment.
OBJECTIVE: To characterize and quantify peripheral nerve lesions and muscle degeneration in clinically, genetically, and electrophysiologically well-classified, nonpediatric patients with 5q-linked spinal muscular atrophy (SMA) by high-resolution magnetic resonance neurography (MRN). METHODS: Thirty-one adult patients with genetically confirmed 5q-linked SMA types II, IIIa, and IIIb and 31 age- and sex-matched healthy volunteers were prospectively investigated. All patients received neurologic, physiotherapeutic, and electrophysiologic assessments. MRN at 3.0T with anatomic coverage from the lumbosacral plexus and proximal thigh down to the tibiotalar joint was performed with dual-echo 2D relaxometry sequences with spectral fat saturation and a 3D T2-weighted inversion recovery sequence. Detailed quantification of nerve injury by morphometric and microstructural MRN markers and qualitative classification of fatty muscle degeneration were conducted. RESULTS: Established clinical scores and compound muscle action potentials discriminated well between the 3 SMA types. MRN revealed that peroneal and tibial nerve cross-sectional area (CSA) at the thigh and lower leg level as well as spinal nerve CSA were markedly decreased throughout all 3 groups, indicating severe generalized peripheral nerve atrophy. While peroneal and tibial nerve T2 relaxation time was distinctly increased at all analyzed anatomic regions, the proton spin density was clearly decreased. Marked differences in fatty muscle degeneration were found between the 3 groups and for all analyzed compartments. CONCLUSIONS: MRN detects and quantifies peripheral nerve involvement in SMA types II, IIIa, and IIIb with high sensitivity in vivo. Quantitative MRN parameters (T2 relaxation time, proton spin density, CSA) might serve as novel imaging biomarkers in SMA to indicate early microstructural nerve tissue changes in response to treatment.
Authors: Adriana M Pietsch; Andrea Viehöver; Ricarda Diem; Markus Weiler; Mirjam Korporal-Kuhnke; Brigitte Wildemann; Georges Sam; John M Hayes; Olivia Fösleitner; Johann M E Jende; Sabine Heiland; Martin Bendszus; Jennifer C Hayes Journal: Clin Neuroradiol Date: 2022-10-20 Impact factor: 3.156
Authors: Maren Freigang; Claudia D Wurster; Tim Hagenacker; Benjamin Stolte; Markus Weiler; Christoph Kamm; Olivia Schreiber-Katz; Alma Osmanovic; Susanne Petri; Alexander Kowski; Thomas Meyer; Jan C Koch; Isabell Cordts; Marcus Deschauer; Paul Lingor; Elisa Aust; Daniel Petzold; Albert C Ludolph; Björn Falkenburger; Andreas Hermann; René Günther Journal: Ann Clin Transl Neurol Date: 2021-03-31 Impact factor: 4.511