Literature DB >> 1851512

Neuromyotonia in hereditary motor neuropathy.

A F Hahn1, A W Parkes, C F Bolton, S A Stewart.   

Abstract

Two siblings with a distal motor neuropathy experienced cramping and difficulty in relaxing their muscles after voluntary contraction. Electromyographic recordings at rest revealed repetitive high voltage spontaneous electrical discharges that were accentuated after voluntary contraction and during ischaemia. Regional neuromuscular blockage with curare indicated hyperexcitability of peripheral nerve fibres and nerve block suggested that the ectopic activity originated in proximal segments of the nerve. Symptoms were improved with diphenylhydantoin, carbamazepine and tocainide.

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Year:  1991        PMID： 1851512      PMCID： PMC1014391          DOI： 10.1136/jnnp.54.3.230

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  26 in total

1.  Effect of diphenylhydantoin on peripheral nerve.

Authors:  F MORRELL; W BRADLEY; M PTASHNE
Journal:  Neurology       Date:  1958-02       Impact factor: 9.910

2.  Function and distribution of three types of rectifying channel in rat spinal root myelinated axons.

Authors:  M Baker; H Bostock; P Grafe; P Martius
Journal:  J Physiol       Date:  1987-02       Impact factor: 5.182

3.  Improved therapy of myotonia with the lidocaine derivative tocainide.

Authors:  R Rüdel; R Dengler; K Ricker; A Haass; W Emser
Journal:  J Neurol       Date:  1980       Impact factor: 4.849

4.  Regional neuromuscular block.

Authors:  T A Torda; D H Klonymus
Journal:  Acta Anaesthesiol Scand Suppl       Date:  1966

5.  Hypoxia-sensitive hyperexcitability of the intramuscular nerve axons in Isaacs' syndrome.

Authors:  K Oda; N Fukushima; H Shibasaki; A Ohnishi
Journal:  Ann Neurol       Date:  1989-02       Impact factor: 10.422

6.  The analgesic effect of tocainide in trigeminal neuralgia.

Authors:  Per Lindström; Ulf Lindblom
Journal:  Pain       Date:  1987-01       Impact factor: 6.961

7.  Paramyotonia congenita: successful treatment with tocainide. Clinical and electrophysiologic findings in seven patients.

Authors:  E W Streib
Journal:  Muscle Nerve       Date:  1987-02       Impact factor: 3.217

8.  Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity.

Authors:  C Vasilescu; M Alexianu; A Dan
Journal:  J Neurol Sci       Date:  1984-01       Impact factor: 3.181

9.  Stereospecific interaction of tocainide with the cardiac sodium channel.

Authors:  R S Sheldon; N J Cannon; A S Nies; H J Duff
Journal:  Mol Pharmacol       Date:  1988-03       Impact factor: 4.436

10.  Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

Authors:  F Lehmann-Horn; R Rüdel; R Dengler; H Lorković; A Haass; K Ricker
Journal:  Muscle Nerve       Date:  1981 Sep-Oct       Impact factor: 3.217
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  10 in total

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Authors:  E K Lee; R A Maselli; W G Ellis; M A Agius
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-12       Impact factor: 10.154

2.  Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Authors:  P Laššuthová; D Šafka Brožková; M Krůtová; J Neupauerová; J Haberlová; R Mazanec; N Dvořáčková; Z Goldenberg; P Seeman
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Review 3.  Stiff muscles.

Authors:  P D Thompson
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-02       Impact factor: 10.154

4.  Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

Authors:  Hui Zhao; Valérie Race; Gert Matthijs; Peter De Jonghe; Wim Robberecht; Diether Lambrechts; Philip Van Damme
Journal:  Eur J Hum Genet       Date:  2013-10-09       Impact factor: 4.246

5.  Lack of neuropathy-related phenotypes in hint1 knockout mice.

Authors:  Kevin L Seburn; Kathryn H Morelli; Albena Jordanova; Robert W Burgess
Journal:  J Neuropathol Exp Neurol       Date:  2014-07       Impact factor: 3.685

6.  Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

Authors:  Alejandro Horga; Ellen Cottenie; Pedro J Tomaselli; Ricard Rojas-García; Maria Salvado; Liliana Villarreal-Pérez; Josep Gamez; Celedonio Márquez-Infante; Henry Houlden; Mary M Reilly
Journal:  J Neurol       Date:  2015-07-21       Impact factor: 4.849

7.  Neuromyotonia, systemic lupus erythematosus and acetylcholine-receptor antibodies.

Authors:  G Magnani; R Nemni; L Leocani; S Amadio; T Locatelli; L Maderna; N Canal; G Comi
Journal:  J Neurol       Date:  1998-03       Impact factor: 4.849

Review 8.  Axonal neuropathy with neuromyotonia: there is a HINT.

Authors:  Kristien Peeters; Teodora Chamova; Ivailo Tournev; Albena Jordanova
Journal:  Brain       Date:  2017-04-01       Impact factor: 13.501

9.  Acquired neuromyotonia following upper respiratory tract infection: a case report.

Authors:  Ibrahim Imam; Simon Edwards; C Oliver Hanemann
Journal:  Cases J       Date:  2009-09-08

10.  Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Authors:  Magdalena Zimoń; Jonathan Baets; Leonardo Almeida-Souza; Els De Vriendt; Jelena Nikodinovic; Yesim Parman; Esra Battaloğlu; Zeliha Matur; Velina Guergueltcheva; Ivailo Tournev; Michaela Auer-Grumbach; Peter De Rijk; Britt-Sabina Petersen; Thomas Müller; Erik Fransen; Philip Van Damme; Wolfgang N Löscher; Nina Barišić; Zoran Mitrovic; Stefano C Previtali; Haluk Topaloğlu; Günther Bernert; Ana Beleza-Meireles; Slobodanka Todorovic; Dusanka Savic-Pavicevic; Boryana Ishpekova; Silvia Lechner; Kristien Peeters; Tinne Ooms; Angelika F Hahn; Stephan Züchner; Vincent Timmerman; Patrick Van Dijck; Vedrana Milic Rasic; Andreas R Janecke; Peter De Jonghe; Albena Jordanova
Journal:  Nat Genet       Date:  2012-09-09       Impact factor: 38.330
  10 in total

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