Tim Godel1, Philipp Bäumer2, Mirko Pham2, Anja Köhn2, Nicole Muschol2, Moritz Kronlage2, Jennifer Kollmer2, Sabine Heiland2, Martin Bendszus2, Victor-Felix Mautner2. 1. From the Department of Neuroradiology (T.G., P.B., M.P., M.K., J.K., S.H., M.B.), Neurological University Clinic, Heidelberg University Hospital; Department of Radiology (P.B.), German Cancer Research Institute, Heidelberg; Department of Neuroradiology (M.P.), Würzburg University Hospital; Department of Pediatrics (A.K., N.M.), University Medical Center Hamburg-Eppendorf; and Department of Neurology (V.-F.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany. tim.godel@med.uni-heidelberg.de. 2. From the Department of Neuroradiology (T.G., P.B., M.P., M.K., J.K., S.H., M.B.), Neurological University Clinic, Heidelberg University Hospital; Department of Radiology (P.B.), German Cancer Research Institute, Heidelberg; Department of Neuroradiology (M.P.), Würzburg University Hospital; Department of Pediatrics (A.K., N.M.), University Medical Center Hamburg-Eppendorf; and Department of Neurology (V.-F.M.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Abstract
OBJECTIVE: To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy. METHODS: In this prospective study, the lumbosacral dorsal root ganglia and proximal peripheral nerve segments of the lower extremity were examined in 11 male patients with Fabry disease by a standardized 3T magnetic resonance neurography protocol. Volumes of L3 to S2 dorsal root ganglia, perfusion parameters of L5-S1 dorsal root ganglia and the spinal nerve L5, and the cross-sectional area of the proximal sciatic nerve were compared to healthy controls. RESULTS: Dorsal root ganglia of patients with Fabry disease were symmetrically enlarged by 78% (L3), 94% (L4), 122% (L5), 115% (S1), and 119% (S2) (p < 0.001). In addition, permeability of the blood-tissue interface was decreased by 53% (p < 0.001). This finding was most pronounced in the peripheral zone of the dorsal root ganglion containing the cell bodies of the primary sensory neurons (p < 0.001). Spinal nerve permeability showed no difference between patients with Fabry disease and controls (p = 0.7). The sciatic nerve of patients with Fabry disease at the thigh level showed an increase in cross-sectional area by 48% (p < 0.001). CONCLUSIONS: Patients with Fabry disease have severely enlarged dorsal root ganglia with dysfunctional perfusion. This may be due to glycolipid accumulation in the dorsal root ganglia mediating direct neurotoxic effects and decreased neuronal blood supply. These alterations were less pronounced in peripheral nerve segments. Thus, the dorsal root ganglion might play a key pathophysiologic role in the development of neuropathy and pain in Fabry disease.
OBJECTIVE: To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy. METHODS: In this prospective study, the lumbosacral dorsal root ganglia and proximal peripheral nerve segments of the lower extremity were examined in 11 male patients with Fabry disease by a standardized 3T magnetic resonance neurography protocol. Volumes of L3 to S2 dorsal root ganglia, perfusion parameters of L5-S1 dorsal root ganglia and the spinal nerve L5, and the cross-sectional area of the proximal sciatic nerve were compared to healthy controls. RESULTS: Dorsal root ganglia of patients with Fabry disease were symmetrically enlarged by 78% (L3), 94% (L4), 122% (L5), 115% (S1), and 119% (S2) (p < 0.001). In addition, permeability of the blood-tissue interface was decreased by 53% (p < 0.001). This finding was most pronounced in the peripheral zone of the dorsal root ganglion containing the cell bodies of the primary sensory neurons (p < 0.001). Spinal nerve permeability showed no difference between patients with Fabry disease and controls (p = 0.7). The sciatic nerve of patients with Fabry disease at the thigh level showed an increase in cross-sectional area by 48% (p < 0.001). CONCLUSIONS:Patients with Fabry disease have severely enlarged dorsal root ganglia with dysfunctional perfusion. This may be due to glycolipid accumulation in the dorsal root ganglia mediating direct neurotoxic effects and decreased neuronal blood supply. These alterations were less pronounced in peripheral nerve segments. Thus, the dorsal root ganglion might play a key pathophysiologic role in the development of neuropathy and pain in Fabry disease.
Authors: Tim Godel; Anja Köhn; Nicole Muschol; Moritz Kronlage; Daniel Schwarz; Jennifer Kollmer; Sabine Heiland; Martin Bendszus; Victor-Felix Mautner; Philipp Bäumer Journal: J Neurol Date: 2018-09-12 Impact factor: 4.849
Authors: James J Miller; Kazuhiro Aoki; Francie Moehring; Carly A Murphy; Crystal L O'Hara; Michael Tiemeyer; Cheryl L Stucky; Nancy M Dahms Journal: JCI Insight Date: 2018-03-22
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Authors: S Weiner; M Strinitz; J Herfurth; F Hessenauer; C Nauroth-Kreß; T Kampf; G A Homola; N Üçeyler; C Sommer; M Pham; M Schindehütte Journal: AJNR Am J Neuroradiol Date: 2022-04-21 Impact factor: 3.825
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