Literature DB >> 23325310

[Genetics of neuropathies].

B Gess1, A Schirmacher, P Young.   

Abstract

Hereditary neuropathies belong to the most common neurogenetic disorders. They appear mostly as sensory and motor neuropathies but there are also pure sensory, pure motor as well as sensory and autonomic hereditary neuropathies. In clinical practice, knowledge of hereditary neuropathies is important in order to recognize them among polyneuropathies and achieve a successful genetic diagnosis. The molecular genetics of hereditary neuropathies are very heterogeneous with currently more than 40 known disease-causing genes. The 4 most common genes account for almost 90% of the genetically diagnosed hereditary neuropathies. In this review article we provide an overview of the currently known genes and propose a rational genetic work-up protocol of the most common genes.

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Year:  2013        PMID: 23325310     DOI: 10.1007/s00115-012-3640-4

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  72 in total

1.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

2.  Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Authors:  Stephan Züchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret A Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery M Vance; Esra Battologlu
Journal:  Nat Genet       Date:  2004-04-04       Impact factor: 38.330

Review 3.  Mechanisms of disease in hereditary sensory and autonomic neuropathies.

Authors:  Annelies Rotthier; Jonathan Baets; Vincent Timmerman; Katrien Janssens
Journal:  Nat Rev Neurol       Date:  2012-01-24       Impact factor: 42.937

4.  Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

Authors:  Judith Calvo; Benoît Funalot; Robert A Ouvrier; Leila Lazaro; Annick Toutain; Philippe De Mas; Pierre Bouche; Brigitte Gilbert-Dussardier; Marie-Christine Arne-Bes; Jean-Pierre Carrière; Hubert Journel; Marie-Christine Minot-Myhie; Claire Guillou; Karima Ghorab; Laurent Magy; Franck Sturtz; Jean-Michel Vallat; Corinne Magdelaine
Journal:  Arch Neurol       Date:  2009-12

Review 5.  Clinical integration of next-generation sequencing technology.

Authors:  R R Gullapalli; M Lyons-Weiler; P Petrosko; R Dhir; M J Becich; W A LaFramboise
Journal:  Clin Lab Med       Date:  2012-12       Impact factor: 1.935

6.  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

7.  X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

Authors:  F S Cowchock; S W Duckett; L J Streletz; L J Graziani; L G Jackson
Journal:  Am J Med Genet       Date:  1985-02

8.  Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.

Authors:  H Takashima; M Nakagawa; F Umehara; K Hirata; M Suehara; H Mayumi; K Yoshishige; W Matsuyama; M Saito; M Jonosono; K Arimura; M Osame
Journal:  Acta Neurol Scand       Date:  2003-01       Impact factor: 3.209

9.  Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding.

Authors:  A Ohnishi; Y Murai; M Ikeda; T Fujita; H Furuya; Y Kuroiwa
Journal:  Muscle Nerve       Date:  1989-07       Impact factor: 3.217

Review 10.  Hereditary sensory and autonomic neuropathies: types II, III, and IV.

Authors:  Felicia B Axelrod; Gabrielle Gold-von Simson
Journal:  Orphanet J Rare Dis       Date:  2007-10-03       Impact factor: 4.123

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