Literature DB >> 23642725

Inherited peripheral neuropathies.

Mario A Saporta1, Michael E Shy.   

Abstract

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder, as opposed to diseases in which the neuropathy is part of a more generalized neurologic or multisystem syndrome. Because of the great genetic heterogeneity of this condition, it can be challenging for the general neurologist to diagnose patients with specific types of CMT. This article reviews the biology of the inherited peripheral neuropathies, delineates major phenotypic features of the CMT subtypes, and suggest strategies for focusing genetic testing.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID： 23642725      PMCID： PMC3646296          DOI： 10.1016/j.ncl.2013.01.009

Source DB:  PubMed          Journal:  Neurol Clin        ISSN： 0733-8619            Impact factor:   3.806


  112 in total

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Authors:  C J Klein; J M Cunningham; E J Atkinson; D J Schaid; S J Hebbring; S A Anderson; D M Klein; P J B Dyck; W J Litchy; S N Thibodeau; P J Dyck
Journal:  Neurology       Date:  2003-04-08       Impact factor: 9.910

2.  CMT4A: identification of a Hispanic GDAP1 founder mutation.

Authors:  Cornelius F Boerkoel; Hiroshi Takashima; Masanori Nakagawa; Shuji Izumo; Dawna Armstrong; Ian Butler; Pedro Mancias; Sozos C H Papasozomenos; Lawrence Z Stern; James R Lupski
Journal:  Ann Neurol       Date:  2003-03       Impact factor: 10.422

3.  Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Authors:  Jan Senderek; Carsten Bergmann; Claudia Stendel; Jutta Kirfel; Nathalie Verpoorten; Peter De Jonghe; Vincent Timmerman; Roman Chrast; Mark H G Verheijen; Greg Lemke; Esra Battaloglu; Yesim Parman; Sevim Erdem; Ersin Tan; Haluk Topaloglu; Andreas Hahn; Wolfgang Müller-Felber; Nicolò Rizzuto; Gian Maria Fabrizi; Manfred Stuhrmann; Sabine Rudnik-Schöneborn; Stephan Züchner; J Michael Schröder; Eckhard Buchheim; Volker Straub; Jörg Klepper; Kathrin Huehne; Bernd Rautenstrauss; Reinhard Büttner; Eva Nelis; Klaus Zerres
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

4.  Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Authors:  Jan Senderek; Carsten Bergmann; Susanne Weber; Uwe-Peter Ketelsen; Hubert Schorle; Sabine Rudnik-Schöneborn; Reinhard Büttner; Eckhard Buchheim; Klaus Zerres
Journal:  Hum Mol Genet       Date:  2003-02-01       Impact factor: 6.150

5.  Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Authors:  Anthony Antonellis; Rachel E Ellsworth; Nyamkhishig Sambuughin; Imke Puls; Annette Abel; Shih-Queen Lee-Lin; Albena Jordanova; Ivo Kremensky; Kyproula Christodoulou; Lefkos T Middleton; Kumaraswamy Sivakumar; Victor Ionasescu; Benoit Funalot; Jeffery M Vance; Lev G Goldfarb; Kenneth H Fischbeck; Eric D Green
Journal:  Am J Hum Genet       Date:  2003-04-10       Impact factor: 11.025

6.  Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.

Authors:  Kristien Verhoeven; Peter De Jonghe; Katrien Coen; Nathalie Verpoorten; Michaela Auer-Grumbach; Jennifer M Kwon; David FitzPatrick; Eric Schmedding; Els De Vriendt; An Jacobs; Veerle Van Gerwen; Klaus Wagner; Hans-Peter Hartung; Vincent Timmerman
Journal:  Am J Hum Genet       Date:  2003-01-21       Impact factor: 11.025

7.  Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.

Authors:  Teresa Sevilla; Ana Cuesta; María José Chumillas; Fernando Mayordomo; Laia Pedrola; Francesc Palau; Juan J Vílchez
Journal:  Brain       Date:  2003-06-23       Impact factor: 13.501

8.  Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Authors:  A Jordanova; P De Jonghe; C F Boerkoel; H Takashima; E De Vriendt; C Ceuterick; J-J Martin; I J Butler; P Mancias; S Ch Papasozomenos; D Terespolsky; L Potocki; C W Brown; M Shy; D A Rita; I Tournev; I Kremensky; J R Lupski; V Timmerman
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

9.  Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Authors:  Jan Senderek; Carsten Bergmann; Vincent T Ramaekers; Eva Nelis; Günther Bernert; Astrid Makowski; Stephan Züchner; Peter De Jonghe; Sabine Rudnik-Schöneborn; Klaus Zerres; J Michael Schröder
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

10.  Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Authors:  H Azzedine; A Bolino; T Taïeb; N Birouk; M Di Duca; A Bouhouche; S Benamou; A Mrabet; T Hammadouche; T Chkili; R Gouider; R Ravazzolo; A Brice; J Laporte; E LeGuern
Journal:  Am J Hum Genet       Date:  2003-04-08       Impact factor: 11.025
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  41 in total

Review 1.  Inherited neuropathies: an update.

Authors:  Anna Sagnelli; Giuseppe Piscosquito; Davide Pareyson
Journal:  J Neurol       Date:  2013-09-24       Impact factor: 4.849

2.  Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Authors:  Kathryn H Morelli; Laurie B Griffin; Nettie K Pyne; Lindsay M Wallace; Allison M Fowler; Stephanie N Oprescu; Ryuichi Takase; Na Wei; Rebecca Meyer-Schuman; Dattatreya Mellacheruvu; Jacob O Kitzman; Samuel G Kocen; Timothy J Hines; Emily L Spaulding; James R Lupski; Alexey Nesvizhskii; Pedro Mancias; Ian J Butler; Xiang-Lei Yang; Ya-Ming Hou; Anthony Antonellis; Scott Q Harper; Robert W Burgess
Journal:  J Clin Invest       Date:  2019-12-02       Impact factor: 14.808

Review 3.  The Importance of Rare Subtypes in Diagnosis and Treatment of Peripheral Neuropathy: A Review.

Authors:  Brian C Callaghan; Raymond S Price; Kevin S Chen; Eva L Feldman
Journal:  JAMA Neurol       Date:  2015-12       Impact factor: 18.302

Review 4.  Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.

Authors:  Warren G Tourtellotte
Journal:  Am J Pathol       Date:  2015-12-24       Impact factor: 4.307

5.  Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

Authors:  Mario A Saporta; Vu Dang; Dmitri Volfson; Bende Zou; Xinmin Simon Xie; Adijat Adebola; Ronald K Liem; Michael Shy; John T Dimos
Journal:  Exp Neurol       Date:  2014-10-30       Impact factor: 5.330

Review 6.  Comparison of high-dose intracisterna magna and lumbar puncture intrathecal delivery of AAV9 in mice to treat neuropathies.

Authors:  Rachel M Bailey; Alejandra Rozenberg; Steven J Gray
Journal:  Brain Res       Date:  2020-04-11       Impact factor: 3.252

7.  Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

Authors:  Kathryn M Brennan; Yunhong Bai; Chiara Pisciotta; Suola Wang; Shawna M E Feely; Mark Hoegger; Laurie Gutmann; Steven A Moore; Michael Gonzalez; Diane L Sherman; Peter J Brophy; Stephan Züchner; Michael E Shy
Journal:  Neuromuscul Disord       Date:  2015-07-07       Impact factor: 4.296

8.  Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?

Authors:  Rubens Paulo A Salomão; Maria Thereza Drumond Gama; Flávio Moura Rezende Filho; Fernanda Maggi; José Luiz Pedroso; Orlando G P Barsottini
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

9.  Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis.

Authors:  Xiangyu Deng; Xiangjing Qin; Lei Chen; Qian Jia; Yonghui Zhang; Zhiyong Zhang; Dongsheng Lei; Gang Ren; Zhihong Zhou; Zhong Wang; Qing Li; Wei Xie
Journal:  J Biol Chem       Date:  2016-01-21       Impact factor: 5.157

10.  Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Authors:  Alexia Kagiava; Irene Sargiannidou; George Theophilidis; Christos Karaiskos; Jan Richter; Stavros Bashiardes; Natasa Schiza; Marianna Nearchou; Christina Christodoulou; Steven S Scherer; Kleopas A Kleopa
Journal:  Proc Natl Acad Sci U S A       Date:  2016-03-28       Impact factor: 11.205
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