Literature DB >> 25898997

A practical approach to the genetic neuropathies.

Alexander M Rossor1, Matthew R B Evans1, Mary M Reilly1.   

Abstract

Charcot-Marie-Tooth disease is the commonest inherited neuromuscular disease. It is characterised by degeneration of peripheral sensory and motor nerves and can be classified into axonal and demyelinating forms. This review provides a diagnostic approach to patients with suspected inherited neuropathy and an algorithm for genetic testing that includes recent advances in genetics such as next-generation sequencing. We also discuss important aspects of the long-term management of patients with inherited neuropathy. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Entities:  

Keywords:  CLINICAL NEUROLOGY; GENETICS; HMSN (CHARCOT-MARIE-TOOTH); NEUROMUSCULAR

Mesh:

Year:  2015        PMID: 25898997     DOI: 10.1136/practneurol-2015-001095

Source DB:  PubMed          Journal:  Pract Neurol        ISSN: 1474-7758


  24 in total

Review 1.  Progress in inflammatory neuropathy -the legacy of Dr Jack Griffin.

Authors:  Eva L Feldman; Richard A C Hughes; Hugh J Willison
Journal:  Nat Rev Neurol       Date:  2015-10-13       Impact factor: 42.937

2.  Slowly progressive distal muscle weakness: neuropathy or myopathy?

Authors:  Yafit Nahari; Ahmed Abbas; Elizabeth Curtis; Saiju Jacob
Journal:  BMJ Case Rep       Date:  2019-04-03

3.  Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.

Authors:  Kristopher T Kahle; Bianca Flores; Diana Bharucha-Goebel; Jinwei Zhang; Sandra Donkervoort; Madhuri Hegde; Gulnaz Hussain; Daniel Duran; Bo Liang; Dandan Sun; Carsten G Bönnemann; Eric Delpire
Journal:  Sci Signal       Date:  2016-08-02       Impact factor: 8.192

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.  [Clinical, pathological and genetic characteristics of 8 patients with distal hereditary motor neuropathy].

Authors:  M G Liu; P Fang; Y Wang; L Cong; Y Y Fan; Y Yuan; Y Xu; J Zhang; D J Hong
Journal:  Beijing Da Xue Xue Bao Yi Xue Ban       Date:  2021-10-18

6.  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

7.  Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Authors:  Alexander M Rossor; Jasper M Morrow; James M Polke; Sinead M Murphy; Henry Houlden; Matilde Laura; Hadi Manji; Julian Blake; Mary M Reilly
Journal:  Neuromuscul Disord       Date:  2016-10-08       Impact factor: 4.296

Review 8.  Recent advances in the genetic neuropathies.

Authors:  Alexander M Rossor; Pedro J Tomaselli; Mary M Reilly
Journal:  Curr Opin Neurol       Date:  2016-10       Impact factor: 5.710

Review 9.  Next-generation sequencing in neuromuscular diseases.

Authors:  Stephanie Efthymiou; Andreea Manole; Henry Houlden
Journal:  Curr Opin Neurol       Date:  2016-10       Impact factor: 5.710

Review 10.  Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Authors:  Cigir Biray Avci; Behrouz Shademan; Masoud Nikanfar; Alireza Nourazarian
Journal:  Neuromolecular Med       Date:  2020-05-12       Impact factor: 3.843

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