The Experts below are selected from a list of 315 Experts worldwide ranked by ideXlab platform

Rudolf Martini - One of the best experts on this subject based on the ideXlab platform.

  • Macrophage‐Related Demyelination In Peripheral Nerves Of Mice Deficient In The Gap Junction Protein Connexin 32
    Journal of the Peripheral Nervous System, 2002
    Co-Authors: Igor Kobsar, Mathias Mäurer, Thomas Ott, Rudolf Martini
    Abstract:

    Mice deficient in the gap junction protein connexin 32 (Cx32) develop a slowly progressing Demyelinating Neuropathy, with enlarged periaxonal collars, abnormal non-compacted myelin domains and axonal sprouts. These mice serve as a model for the X-linked form of inherited demyelin- ating neuropathies in humans. Based on our previous findings that macrophages are involved in demyelination in other myelin mutants (i.e. mice heterozygously deficient in P0), we considered the possibility that macrophages might be also mediators of demyelination in Cx32-deficient mice. Indeed, we detected an age-related increase in the number of macrophages in Demyelinating nerves of Cx32-deficient mice. In addition, immunoelectron microscopy revealed macrophages in an apposition to degenerating myelin reminiscent of a macrophage-mediated Demyelinating Neuropathy. We conclude that involvement of macrophages might be a widespread phenomenon in genetically-determined demyelination.

  • Macrophage-related demyelination in peripheral nerves of mice deficient in the gap junction protein connexin 32.
    Neuroscience letters, 2002
    Co-Authors: Igor Kobsar, Mathias Mäurer, Thomas Ott, Rudolf Martini
    Abstract:

    Mice deficient in the gap junction protein connexin 32 (Cx32) develop a slowly progressing Demyelinating Neuropathy, with enlarged periaxonal collars, abnormal non-compacted myelin domains and axonal sprouts. These mice serve as a model for the X-linked form of inherited Demyelinating neuropathies in humans. Based on our previous findings that macrophages are involved in demyelination in other myelin mutants (i.e. mice heterozygously deficient in P0), we considered the possibility that macrophages might be also mediators of demyelination in Cx32-deficient mice. Indeed, we detected an age-related increase in the number of macrophages in Demyelinating nerves of Cx32-deficient mice. In addition, immunoelectron microscopy revealed macrophages in an apposition to degenerating myelin reminiscent of a macrophage-mediated Demyelinating Neuropathy. We conclude that involvement of macrophages might be a widespread phenomenon in genetically-determined demyelination.

Richard A C Hughes - One of the best experts on this subject based on the ideXlab platform.

  • autologous peripheral blood stem cell transplantation for chronic acquired Demyelinating Neuropathy
    Journal of The Peripheral Nervous System, 2009
    Co-Authors: Mohamed Mahdirogers, Majid Kazmi, Rosalie E Ferner, Richard A C Hughes, Susanne Renaud, A J Steck, Peter Fuhr, Joerg Halter, Alois Gratwohl, Alan Tyndall
    Abstract:

    Six patients with chronic acquired Demyelinating Neuropathy (CADP) were treated with autologous peripheral blood stem cell transplantation (PBSCT). Two with polyNeuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome improved-improvement was sustained in one but relapsed and required repeat transplant in the other. Two of the three with chronic inflammatory Demyelinating polyradiculoNeuropathy (CIDP) and one with an IgM paraprotein and antibodies to nerve improved--of the responders, one relapsed after 18 months and the other was in remission after 6 months. Four developed neutropenic septicemia and pneumonia. The role of PBSCT in CADP refractory to other treatment deserves further investigation but the serious adverse events and lack of sustained response in some patients emphasize the need for caution.

  • Systematic reviews of treatment for inflammatory Demyelinating Neuropathy.
    Journal of anatomy, 2002
    Co-Authors: Richard A C Hughes
    Abstract:

    This review describes the progress made in preparing Cochrane systematic reviews of randomized controlled trials for Guillain-Barre syndrome (GBS), chronic inflammatory Demyelinating polyradiculoNeuropathy (CIDP), multifocal motor Neuropathy (MMN) and the Demyelinating neuropathies associated with paraproteins. The discovery of antibodies against myelin and axolemmal glycolipids and proteins has not yet replaced the clinicopathological classification on which treatment trials have been based. Systematic reviews have endorsed the equivalence of plasma exchange (PE) and intravenous immunoglobulin (IVIg) and the lack of efficacy of steroids in GBS. Systematic reviews have also endorsed the value of steroids, PE and IVIg in CIDP but randomized controlled trials have only shown benefit from IVIg in MMN. There is a paucity of evidence concerning the efficacy of treatments in paraproteinaemic Demyelinating Neuropathy apartment from small trials showing short-term benefit from PE or IVIg. There is a lack of good quality controlled trials of immunosuppressive agents in any of these conditions. As the number of treatment trials increases, Cochrane systematic reviews will be an increasingly valuable resource for summarizing the evidence from randomised controlled trials on which to base clinical practice. They already demonstrate major deficiencies in the existing evidence base.

Byung-ok Choi - One of the best experts on this subject based on the ideXlab platform.

  • Serum CXCL13 reflects local B-cell mediated inflammatory Demyelinating peripheral Neuropathy
    Scientific Reports, 2019
    Co-Authors: Young Hee Kim, So Young Jang, Yoon Kyung Shin, Byeol-a. Yoon, Soo Hyun Nam, Byung-ok Choi, Ha Young Shin, Seung Woo Kim, Se Hoon Kim, Jong Kuk Kim
    Abstract:

    Immune damages on the peripheral myelin sheath under pro-inflammatory milieu result in primary demyelination in inflammatory Demyelinating Neuropathy. Inflammatory cytokines implicating in the pathogenesis of inflammatory Demyelinating Neuropathy have been used for the development of potential biomarkers for the diagnosis of the diseases. In this study, we have found that macrophages, which induce demyelination, expressed a B-cell-recruiting factor CXC chemokine ligand 13 (CXCL13) in mouse and human inflammatory Demyelinating nerves. The serum levels of CXCL13 were also higher in inflammatory Demyelinating neuropathic patients but not in acute motor axonal Neuropathy or a hereditary Demyelinating Neuropathy, Charcot-Marie-Tooth disease type 1a. In addition, CXCL13-expressing macrophages were not observed in the sciatic nerves after axonal injury, which causes the activation of innate immunity and Wallerian demyelination. Our findings indicate that the detection of serum CXCL13 will be useful to specifically recognize inflammatory Demyelinating neuropathies in human.

  • NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
    Journal of Human Genetics, 2008
    Co-Authors: Ji Soo Shin, Ki Wha Chung, Su Jin Hwang, Sung Hee Kang, Byung-ok Choi
    Abstract:

    Charcot-Marie-Tooth disease (CMT) is classified into Demyelinating Neuropathy (CMT1) and axonal Neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide ( NEFL ) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with Demyelinating Neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way.

Igor Kobsar - One of the best experts on this subject based on the ideXlab platform.

  • Macrophage‐Related Demyelination In Peripheral Nerves Of Mice Deficient In The Gap Junction Protein Connexin 32
    Journal of the Peripheral Nervous System, 2002
    Co-Authors: Igor Kobsar, Mathias Mäurer, Thomas Ott, Rudolf Martini
    Abstract:

    Mice deficient in the gap junction protein connexin 32 (Cx32) develop a slowly progressing Demyelinating Neuropathy, with enlarged periaxonal collars, abnormal non-compacted myelin domains and axonal sprouts. These mice serve as a model for the X-linked form of inherited demyelin- ating neuropathies in humans. Based on our previous findings that macrophages are involved in demyelination in other myelin mutants (i.e. mice heterozygously deficient in P0), we considered the possibility that macrophages might be also mediators of demyelination in Cx32-deficient mice. Indeed, we detected an age-related increase in the number of macrophages in Demyelinating nerves of Cx32-deficient mice. In addition, immunoelectron microscopy revealed macrophages in an apposition to degenerating myelin reminiscent of a macrophage-mediated Demyelinating Neuropathy. We conclude that involvement of macrophages might be a widespread phenomenon in genetically-determined demyelination.

  • Macrophage-related demyelination in peripheral nerves of mice deficient in the gap junction protein connexin 32.
    Neuroscience letters, 2002
    Co-Authors: Igor Kobsar, Mathias Mäurer, Thomas Ott, Rudolf Martini
    Abstract:

    Mice deficient in the gap junction protein connexin 32 (Cx32) develop a slowly progressing Demyelinating Neuropathy, with enlarged periaxonal collars, abnormal non-compacted myelin domains and axonal sprouts. These mice serve as a model for the X-linked form of inherited Demyelinating neuropathies in humans. Based on our previous findings that macrophages are involved in demyelination in other myelin mutants (i.e. mice heterozygously deficient in P0), we considered the possibility that macrophages might be also mediators of demyelination in Cx32-deficient mice. Indeed, we detected an age-related increase in the number of macrophages in Demyelinating nerves of Cx32-deficient mice. In addition, immunoelectron microscopy revealed macrophages in an apposition to degenerating myelin reminiscent of a macrophage-mediated Demyelinating Neuropathy. We conclude that involvement of macrophages might be a widespread phenomenon in genetically-determined demyelination.

Rhys C. Roberts - One of the best experts on this subject based on the ideXlab platform.

  • Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C
    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2016
    Co-Authors: Sauparnika Vijay, Meagan Chiu, Joel B. Dacks, Rhys C. Roberts
    Abstract:

    Charcot-Marie-Tooth disease type 4C (CMT4C) is one of the commonest autosomal recessive inherited peripheral neuropathies and is associated with mutations in the Rab11 effector, SH3TC2. Disruption of the SH3TC2–Rab11 interaction is the molecular abnormality underlying this disease. However, why SH3TC2 mutations cause an isolated Demyelinating Neuropathy remains unanswered. Here we show that SH3TC2 is an exclusive Schwann cell protein expressed late in myelination and is downregulated following denervation suggesting a functional role in myelin sheath maintenance. We support our data with an evolutionary cell biological analysis showing that the SH3TC2 gene, and its paralogue SH3TC1, are derived from an ancestral homologue, the duplication of which occurred in the common ancestor of jawed vertebrates, coincident with the appearance of Schwann cells and peripheral axon myelination. Furthermore, we report that SH3TC2 associates with integrin-α6, suggesting that aberrant Rab11-dependent endocytic trafficking of this critical laminin receptor in myelinated Schwann cells is connected to the demyelination seen in affected nerves. Our study therefore highlights the inherent evolutionary link between SH3TC2 and peripheral nerve myelination, pointing also towards a molecular mechanism underlying the specific Demyelinating Neuropathy that characterizes CMT4C.