Literature DB >> 12929199

Inflammatory demyelination in a patient with CMT1A.

Anne Vital1, Claude Vital, Alain Lagueny, Xavier Ferrer, Catherine Ribière-Bachelier, Philippe Latour, Klaus G Petry.   

Abstract

We report a case of Charcot-Marie-Tooth disease (CMT), with identified PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the course of the chronic genetic disease. Macrophage-associated demyelination was observed on the peripheral nerve biopsy. This observation supports some experimental data from the literature and shows that there may be a genetic susceptibility to inflammatory demyelinating processes in certain CMT kindreds.

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Year:  2003        PMID： 12929199     DOI： 10.1002/mus.10404

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  10 in total

1.  Considerable post-partum worsening in a patient with CMT2E.

Authors:  Luca Gentile; Federica Taioli; Gian Maria Fabrizi; Massimo Russo; Claudia Stancanelli; Anna Mazzeo
Journal:  Neurol Sci       Date:  2013-02-15       Impact factor: 3.307

2.  A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease.

Authors:  Hideya Sakaguchi; Satoshi Yamashita; Akiko Miura; Tomoo Hirahara; En Kimura; Yasushi Maeda; Tadashi Terasaki; Teruyuki Hirano; Makoto Uchino
Journal:  J Neurol       Date:  2010-09-21       Impact factor: 4.849

Review 3.  [The role of the immune system in hereditary demyelinating neuropathies].

Authors:  M Mäurer; K V Toyka; R Martini
Journal:  Nervenarzt       Date:  2005-06       Impact factor: 1.214

4.  Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia.

Authors:  Camiel Verhamme; Ivo N van Schaik; Johannes H T M Koelman; Rob J de Haan; Marinus Vermeulen; Marianne de Visser
Journal:  J Neurol       Date:  2004-12       Impact factor: 4.849

5.  Alpha-1 Antitrypsin Reduces Disease Progression in a Mouse Model of Charcot-Marie-Tooth Type 1A: A Role for Decreased Inflammation and ADAM-17 Inhibition.

Authors:  Nikolay Zhukovsky; Marianna Silvano; Thierry Filloux; Sergio Gonzalez; Karl-Heinz Krause
Journal:  Int J Mol Sci       Date:  2022-07-03       Impact factor: 6.208

Review 6.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

7.  Melatonin Treatment Reduces Oxidative Damage and Normalizes Plasma Pro-Inflammatory Cytokines in Patients Suffering from Charcot-Marie-Tooth Neuropathy: A Pilot Study in Three Children.

Authors:  Mariam Chahbouni; María Del Señor López; Antonio Molina-Carballo; Tomás de Haro; Antonio Muñoz-Hoyos; Marisol Fernández-Ortiz; Ana Guerra-Librero; Darío Acuña-Castroviejo
Journal:  Molecules       Date:  2017-10-14       Impact factor: 4.411

8.  Acute to Subacute Atraumatic Entrapment Neuropathies in Patients With CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A.

Authors:  Zhiyong Chen; Monica Saini; Shermyn X M Neo; Peng-Soon Ng; Jasmine S Koh; Kalpana Prasad; Kamal Verma; Sonia Davila; Weng Khong Lim; Ziqun Phua; Michelle M Li; Corrine Kang; Karine S S Tay; Josiah Y H Chai
Journal:  Front Neurol       Date:  2022-02-25       Impact factor: 4.003

9.  Functional and comparative genomics analyses of pmp22 in medaka fish.

Authors:  Junji Itou; Mikita Suyama; Yukio Imamura; Tomonori Deguchi; Kazuhiro Fujimori; Shunsuke Yuba; Yutaka Kawarabayasi; Takashi Kawasaki
Journal:  BMC Neurosci       Date:  2009-06-17       Impact factor: 3.288

Review 10.  The Mechanisms of Traditional Chinese Medicine Underlying the Prevention and Treatment of Parkinson's Disease.

Authors:  Xiaoliang Li; YaNan Zhang; Yu Wang; Jing Xu; Ping Xin; YongHai Meng; Qiuhong Wang; Haixue Kuang
Journal:  Front Pharmacol       Date:  2017-09-19       Impact factor: 5.810
  10 in total

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