The Experts below are selected from a list of 237 Experts worldwide ranked by ideXlab platform
Philipp Baumer - One of the best experts on this subject based on the ideXlab platform.
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Dorsal Root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Journal of Neurology, 2019Co-Authors: Tim Godel, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Nicole Muschol, Jennifer Kollmer, Katharina Stumpfe, Merle Brunnée, Victor-felix MautnerAbstract:Purpose To examine Dorsal Root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA -gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography. Methods This prospective multicenter study examines the lumbosacral Dorsal Root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of Dorsal Root ganglia L3 to S2, permeability of Dorsal Root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls. Results Compared to healthy controls, Dorsal Root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) ( p < 0.001), and 55% (S2) ( p
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Annals of Neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0.001) but not in schwannomatosis. Dorsal Root ganglia may be a vulnerable site in origination of areflexia and sensory loss and a useful diagnostic marker in neurofibromatosis type 2. Ann Neurol 2018;83:854-857.
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
Annals of neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p
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Human Dorsal Root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Neurology, 2017Co-Authors: Tim Godel, Mirko Pham, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Anja Köhn, Nicole Muschol, Jennifer Kollmer, Victor-felix MautnerAbstract: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 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.
Tim Godel - One of the best experts on this subject based on the ideXlab platform.
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Dorsal Root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Journal of Neurology, 2019Co-Authors: Tim Godel, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Nicole Muschol, Jennifer Kollmer, Katharina Stumpfe, Merle Brunnée, Victor-felix MautnerAbstract:Purpose To examine Dorsal Root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA -gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography. Methods This prospective multicenter study examines the lumbosacral Dorsal Root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of Dorsal Root ganglia L3 to S2, permeability of Dorsal Root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls. Results Compared to healthy controls, Dorsal Root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) ( p < 0.001), and 55% (S2) ( p
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Annals of Neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0.001) but not in schwannomatosis. Dorsal Root ganglia may be a vulnerable site in origination of areflexia and sensory loss and a useful diagnostic marker in neurofibromatosis type 2. Ann Neurol 2018;83:854-857.
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
Annals of neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p
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Human Dorsal Root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Neurology, 2017Co-Authors: Tim Godel, Mirko Pham, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Anja Köhn, Nicole Muschol, Jennifer Kollmer, Victor-felix MautnerAbstract: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 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.
Victor-felix Mautner - One of the best experts on this subject based on the ideXlab platform.
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Dorsal Root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Journal of Neurology, 2019Co-Authors: Tim Godel, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Nicole Muschol, Jennifer Kollmer, Katharina Stumpfe, Merle Brunnée, Victor-felix MautnerAbstract:Purpose To examine Dorsal Root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA -gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography. Methods This prospective multicenter study examines the lumbosacral Dorsal Root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of Dorsal Root ganglia L3 to S2, permeability of Dorsal Root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls. Results Compared to healthy controls, Dorsal Root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) ( p < 0.001), and 55% (S2) ( p
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Annals of Neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0.001) but not in schwannomatosis. Dorsal Root ganglia may be a vulnerable site in origination of areflexia and sensory loss and a useful diagnostic marker in neurofibromatosis type 2. Ann Neurol 2018;83:854-857.
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
Annals of neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p
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Human Dorsal Root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Neurology, 2017Co-Authors: Tim Godel, Mirko Pham, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Anja Köhn, Nicole Muschol, Jennifer Kollmer, Victor-felix MautnerAbstract: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 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.
Christopher Power - One of the best experts on this subject based on the ideXlab platform.
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proteinase activated receptor 1 mediates Dorsal Root ganglion neuronal degeneration in hiv aids
Brain, 2011Co-Authors: Shaona Acharjee, Morley D. Hollenberg, Yu Zhu, Ferdinand Maingat, Carlos A. Pardo, Klaus Ballanyi, Christopher PowerAbstract:Distal sensory polyneuropathy is a frequent complication of lentivirus infections of the peripheral nervous system including both human immunodeficiency virus and feline immunodeficiency virus. Proteinase-activated receptors are G protein-coupled receptors implicated in the pathogenesis of neuroinflammation and neurodegeneration. Proteinase-activated receptor-1 is expressed on different cell types within the nervous system including neurons and glia, but little is known about its role in the pathogenesis of inflammatory peripheral nerve diseases, particularly lentivirus-related distal sensory polyneuropathy. Herein, the expression and functions of proteinase-activated receptor-1 in the peripheral nervous system during human immunodeficiency virus and feline immunodeficiency virus infections were investigated. Proteinase-activated receptor-1 expression was most evident in autopsied Dorsal Root ganglion neurons from subjects infected with human immunodeficiency virus, compared with the Dorsal Root ganglia of uninfected subjects. Human immunodeficiency virus or feline immunodeficiency virus infection of cultured human or feline Dorsal Root ganglia caused upregulation of interleukin-1β and proteinase-activated receptor-1 expression. In the human immunodeficiency virus- or feline immunodeficiency virus-infected Dorsal Root ganglia, interleukin-1β activation was principally detected in macrophages, while neurons showed induction of proteinase-activated receptor-1. Binding of proteinase-activated receptor-1 by the selective proteinase-activated receptor-1-activating peptide resulted in neurite retraction and soma atrophy in conjunction with cytosolic calcium activation in human Dorsal Root ganglion neurons. Interleukin-1β exposure to feline or human Dorsal Root ganglia caused upregulation of proteinase-activated receptor-1 in neurons. Exposure of feline immunodeficiency virus-infected Dorsal Root ganglia to the interleukin-1 receptor antagonist prevented proteinase-activated receptor-1 induction and neurite retraction. In vivo feline immunodeficiency virus infection was associated with increased proteinase-activated receptor-1 expression on neurons and interleukin-1β induction in macrophages. Moreover, feline immunodeficiency virus infection caused hyposensitivity to mechanical stimulation. These data indicated that activation and upregulation of proteinase-activated receptor-1 by interleukin-1β contributed to Dorsal Root ganglion neuronal damage during lentivirus infections leading to the development of distal sensory polyneuropathy and might also provide new targets for future therapeutic interventions. * Abbreviations : FIV : feline immunodeficiency virus HIV : human immunodeficiency virus PAR : proteinase-activated receptor
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Proteinase-activated receptor-1 mediates Dorsal Root ganglion neuronal degeneration in HIV/AIDS
Brain, 2011Co-Authors: Shaona Acharjee, Morley D. Hollenberg, Yu Zhu, Ferdinand Maingat, Carlos A. Pardo, Klaus Ballanyi, Christopher PowerAbstract:Distal sensory polyneuropathy is a frequent complication of lentivirus infections of the peripheral nervous system including both human immunodeficiency virus and feline immunodeficiency virus. Proteinase-activated receptors are G protein-coupled receptors implicated in the pathogenesis of neuroinflammation and neurodegeneration. Proteinase-activated receptor-1 is expressed on different cell types within the nervous system including neurons and glia, but little is known about its role in the pathogenesis of inflammatory peripheral nerve diseases, particularly lentivirus-related distal sensory polyneuropathy. Herein, the expression and functions of proteinase-activated receptor-1 in the peripheral nervous system during human immunodeficiency virus and feline immunodeficiency virus infections were investigated. Proteinase-activated receptor-1 expression was most evident in autopsied Dorsal Root ganglion neurons from subjects infected with human immunodeficiency virus, compared with the Dorsal Root ganglia of uninfected subjects. Human immunodeficiency virus or feline immunodeficiency virus infection of cultured human or feline Dorsal Root ganglia caused upregulation of interleukin-1β and proteinase-activated receptor-1 expression. In the human immunodeficiency virus- or feline immunodeficiency virus-infected Dorsal Root ganglia, interleukin-1β activation was principally detected in macrophages, while neurons showed induction of proteinase-activated receptor-1. Binding of proteinase-activated receptor-1 by the selective proteinase-activated receptor-1-activating peptide resulted in neurite retraction and soma atrophy in conjunction with cytosolic calcium activation in human Dorsal Root ganglion neurons. Interleukin-1β exposure to feline or human Dorsal Root ganglia caused upregulation of proteinase-activated receptor-1 in neurons. Exposure of feline immunodeficiency virus-infected Dorsal Root ganglia to the interleukin-1 receptor antagonist prevented proteinase-activated receptor-1 induction and neurite retraction. In vivo feline immunodeficiency virus infection was associated with increased proteinase-activated receptor-1 expression on neurons and interleukin-1β induction in macrophages. Moreover, feline immunodeficiency virus infection caused hyposensitivity to mechanical stimulation. These data indicated that activation and upregulation of proteinase-activated receptor-1 by interleukin-1β contributed to Dorsal Root ganglion neuronal damage during lentivirus infections leading to the development of distal sensory polyneuropathy and might also provide new targets for future therapeutic interventions. * Abbreviations : FIV : feline immunodeficiency virus HIV : human immunodeficiency virus PAR : proteinase-activated receptor
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Proteinase-activated receptor-1 mediates Dorsal Root ganglion neuronal degeneration in HIV/AIDS.
Brain : a journal of neurology, 2011Co-Authors: Shaona Acharjee, Morley D. Hollenberg, Yu Zhu, Ferdinand Maingat, Klaus Ballanyi, Carlos Pardo, Christopher PowerAbstract:Distal sensory polyneuropathy is a frequent complication of lentivirus infections of the peripheral nervous system including both human immunodeficiency virus and feline immunodeficiency virus. Proteinase-activated receptors are G protein-coupled receptors implicated in the pathogenesis of neuroinflammation and neurodegeneration. Proteinase-activated receptor-1 is expressed on different cell types within the nervous system including neurons and glia, but little is known about its role in the pathogenesis of inflammatory peripheral nerve diseases, particularly lentivirus-related distal sensory polyneuropathy. Herein, the expression and functions of proteinase-activated receptor-1 in the peripheral nervous system during human immunodeficiency virus and feline immunodeficiency virus infections were investigated. Proteinase-activated receptor-1 expression was most evident in autopsied Dorsal Root ganglion neurons from subjects infected with human immunodeficiency virus, compared with the Dorsal Root ganglia of uninfected subjects. Human immunodeficiency virus or feline immunodeficiency virus infection of cultured human or feline Dorsal Root ganglia caused upregulation of interleukin-1β and proteinase-activated receptor-1 expression. In the human immunodeficiency virus- or feline immunodeficiency virus-infected Dorsal Root ganglia, interleukin-1β activation was principally detected in macrophages, while neurons showed induction of proteinase-activated receptor-1. Binding of proteinase-activated receptor-1 by the selective proteinase-activated receptor-1-activating peptide resulted in neurite retraction and soma atrophy in conjunction with cytosolic calcium activation in human Dorsal Root ganglion neurons. Interleukin-1β exposure to feline or human Dorsal Root ganglia caused upregulation of proteinase-activated receptor-1 in neurons. Exposure of feline immunodeficiency virus-infected Dorsal Root ganglia to the interleukin-1 receptor antagonist prevented proteinase-activated receptor-1 induction and neurite retraction. In vivo feline immunodeficiency virus infection was associated with increased proteinase-activated receptor-1 expression on neurons and interleukin-1β induction in macrophages. Moreover, feline immunodeficiency virus infection caused hyposensitivity to mechanical stimulation. These data indicated that activation and upregulation of proteinase-activated receptor-1 by interleukin-1β contributed to Dorsal Root ganglion neuronal damage during lentivirus infections leading to the development of distal sensory polyneuropathy and might also provide new targets for future therapeutic interventions.
Moritz Kronlage - One of the best experts on this subject based on the ideXlab platform.
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Dorsal Root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y
Journal of Neurology, 2019Co-Authors: Tim Godel, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Nicole Muschol, Jennifer Kollmer, Katharina Stumpfe, Merle Brunnée, Victor-felix MautnerAbstract:Purpose To examine Dorsal Root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA -gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography. Methods This prospective multicenter study examines the lumbosacral Dorsal Root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of Dorsal Root ganglia L3 to S2, permeability of Dorsal Root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls. Results Compared to healthy controls, Dorsal Root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) ( p < 0.001), and 55% (S2) ( p
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2
Annals of Neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p < 0.001) but not in schwannomatosis. Dorsal Root ganglia may be a vulnerable site in origination of areflexia and sensory loss and a useful diagnostic marker in neurofibromatosis type 2. Ann Neurol 2018;83:854-857.
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Dorsal Root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.
Annals of neurology, 2018Co-Authors: Tim Godel, Said Farschtschi, Victor-felix Mautner, Mirko Pham, Isabel Gugel, Daniel Schwarz, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp BaumerAbstract:Schwannomatosis and neurofibromatosis type 2 are hereditary tumor syndromes, and peripheral neuropathy has been reported in both. We prospectively applied in vivo morphometric measurement of Dorsal Root ganglia volume in 16 schwannomatosis patients, 14 neurofibromatosis type 2 patients, and 26 healthy controls by magnetic resonance neurography. Compared to healthy controls, Dorsal Root ganglia hypertrophy was a consistent finding in neurofibromatosis type 2 (L3, + 267%; L4, + 235%; L5, + 241%; S1, + 300%; S2, + 242%; Bonferroni-adjusted p
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Human Dorsal Root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Neurology, 2017Co-Authors: Tim Godel, Mirko Pham, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Philipp Baumer, Anja Köhn, Nicole Muschol, Jennifer Kollmer, Victor-felix MautnerAbstract: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 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.