Literature DB >> 23117945

Inherited neuropathies.

Jun Li1.   

Abstract

With a prevalence of 1 in 2500 people, inherited peripheral nerve diseases, collectively called Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurologic disorders. Patients with CMT typically present with chronic muscle weakness and atrophy in limbs, sensory loss in the feet and hands, and foot deformities. Clinical similarities between patients often require genetic testing to achieve a precise diagnosis. In this article, the author reviews the clinical and pathologic features of CMT, and demonstrates how electrodiagnostic and genetic tools are used to assist in the diagnosis and symptomatic management of the diseases. Several cases are presented to illustrate the diagnostic processes. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Entities:  

Mesh:

Year:  2012        PMID: 23117945      PMCID: PMC3667957          DOI: 10.1055/s-0032-1329198

Source DB:  PubMed          Journal:  Semin Neurol        ISSN: 0271-8235            Impact factor:   3.420


  71 in total

1.  Molecular dissection of the Schwann cell specific promoter of the PMP22 gene.

Authors:  D Sabéran-Djoneidi; V Sanguedolce; Z Assouline; N Lévy; E Passage; M Fontés
Journal:  Gene       Date:  2000-05-02       Impact factor: 3.688

2.  Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.

Authors:  A Gutierrez; J D England; A J Sumner; S Ferer; L E Warner; J R Lupski; C A Garcia
Journal:  Muscle Nerve       Date:  2000-02       Impact factor: 3.217

3.  Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

Authors:  Yunhong Bai; Emilia Ianokova; Qin Pu; Khaled Ghandour; Rock Levinson; Jean-Jacques Martin; Chantal Ceuterick-de Groote; Radim Mazanec; Pavel Seeman; Michael E Shy; Jun Li
Journal:  Arch Neurol       Date:  2006-12

4.  Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Authors:  I V Mersiyanova; S M Ismailov; A V Polyakov; E L Dadali; V P Fedotov; E Nelis; A Löfgren; V Timmerman; C van Broeckhoven; O V Evgrafov
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

Review 5.  Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.

Authors:  A Gabreëls-Festen; R V Wetering
Journal:  Ann N Y Acad Sci       Date:  1999-09-14       Impact factor: 5.691

6.  Correlation between weakness and axonal loss in patients with CMT1A.

Authors:  K Krajewski; C Turansky; R Lewis; J Garbern; S Hinderer; J Kamholz; M E Shy
Journal:  Ann N Y Acad Sci       Date:  1999-09-14       Impact factor: 5.691

Review 7.  Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

Authors:  R A Lewis; A J Sumner; M E Shy
Journal:  Muscle Nerve       Date:  2000-10       Impact factor: 3.217

8.  The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Authors:  P Bomont; L Cavalier; F Blondeau; C Ben Hamida; S Belal; M Tazir; E Demir; H Topaloglu; R Korinthenberg; B Tüysüz; P Landrieu; F Hentati; M Koenig
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

9.  Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

Authors:  K M Krajewski; R A Lewis; D R Fuerst; C Turansky; S R Hinderer; J Garbern; J Kamholz; M E Shy
Journal:  Brain       Date:  2000-07       Impact factor: 13.501

10.  A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL): the study protocol [EudraCT no.: 2006-000032-27].

Authors:  Davide Pareyson; Angelo Schenone; Gian Maria Fabrizi; Lucio Santoro; Luca Padua; Aldo Quattrone; Giuseppe Vita; Franco Gemignani; Francesco Visioli; Alessandra Solari
Journal:  Pharmacol Res       Date:  2006-09-09       Impact factor: 7.658

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  11 in total

1.  Proximal nerve magnetization transfer MRI relates to disability in Charcot-Marie-Tooth diseases.

Authors:  Richard D Dortch; Lindsey M Dethrage; John C Gore; Seth A Smith; Jun Li
Journal:  Neurology       Date:  2014-09-24       Impact factor: 9.910

Review 2.  Ophthalmic manifestations of inherited neurodegenerative disorders.

Authors:  Hannah M Kersten; Richard H Roxburgh; Helen V Danesh-Meyer
Journal:  Nat Rev Neurol       Date:  2014-05-20       Impact factor: 42.937

Review 3.  Molecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic models.

Authors:  Jun Li
Journal:  Exp Neurol       Date:  2015-03-17       Impact factor: 5.330

4.  Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.

Authors:  Carlos G Vanoye; Masayoshi Sakakura; Rose M Follis; Alexandra J Trevisan; Malathi Narayan; Jun Li; Charles R Sanders; Bruce D Carter
Journal:  J Biol Chem       Date:  2019-06-18       Impact factor: 5.157

5.  Candidate imaging biomarkers for PMP22-related inherited neuropathies.

Authors:  Alison R Roth; Jun Li; Richard D Dortch
Journal:  Ann Clin Transl Neurol       Date:  2022-06-03       Impact factor: 5.430

6.  N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.

Authors:  Yi Yang; Li-Qiang Gu; William B Burnette; Jun Li
Journal:  J Neurol Sci       Date:  2016-04-09       Impact factor: 3.181

7.  A novel missense mutation of CMT2P alters transcription machinery.

Authors:  Bo Hu; Sezgi Arpag; Stephan Zuchner; Jun Li
Journal:  Ann Neurol       Date:  2016-09-27       Impact factor: 10.422

8.  Optical coherence tomography findings in Huntington's disease: a potential biomarker of disease progression.

Authors:  Hannah M Kersten; Helen V Danesh-Meyer; Dean H Kilfoyle; Richard H Roxburgh
Journal:  J Neurol       Date:  2015-08-02       Impact factor: 4.849

9.  Late-onset laryngeal paralysis: Owner perception of quality of life and cause of death.

Authors:  Susannah J Sample; Allison Stilin; Emily E Binversie; Lauren A Baker; Robert J Hardie
Journal:  Vet Med Sci       Date:  2020-01-25

Review 10.  Peripheral nerve magnetic resonance imaging.

Authors:  Yongsheng Chen; E Mark Haacke; Jun Li
Journal:  F1000Res       Date:  2019-10-28
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