Literature DB >> 25201224

Charcot Marie Tooth disease (CMT): historical perspectives and evolution.

Mohamed Kazamel1, Christopher J Boes.   

Abstract

Prior to Charcot and Marie's and Tooth's reports, patients with peroneal muscular atrophy had been described by Virchow, Eulenburg, Friedreich, Osler, and others. In February 1886, Charcot and Marie published their original description of five patients who had what they called Progressive Muscular Atrophy. They surmised that the lesion could be in the spinal cord. Three months later, Tooth presented his M.D. degree thesis entitled "Peroneal Type of Progressive Muscular Atrophy", to the University of Cambridge, UK. Tooth localized the pathology to the peripheral nerves. Dyck and Lambert (Arch Neurol 18:619-625, 1968) classified several CMT kinships based on differences in modes of inheritance, natural history, biochemical features, nerve conduction velocity, and pathologic characteristics. This article will focus on historical landmarks and major discoveries pertinent to the disease since its original description through the second half of the twentieth century.

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Year:  2014        PMID: 25201224     DOI: 10.1007/s00415-014-7490-9

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  12 in total

1.  Charcot-Marie-tooth disease.

Authors:  A G Smith
Journal:  Arch Neurol       Date:  2001-06

2.  Original descriptions of peroneal muscular atrophy.

Authors:  José Berciano; María T Berciano; Onofre Combarros
Journal:  Muscle Nerve       Date:  2003-08       Impact factor: 3.217

3.  What can we learn from the history of Charcot-Marie-Tooth disease?

Authors:  Robert Ouvrier
Journal:  Dev Med Child Neurol       Date:  2010-05       Impact factor: 5.449

4.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

5.  Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.

Authors:  A Heimler; E Friedman; A D Rosenthal
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

6.  Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.

Authors:  J M Vance; G A Nicholson; L H Yamaoka; J Stajich; C S Stewart; M C Speer; W Y Hung; A D Roses; D Barker; M A Pericak-Vance
Journal:  Exp Neurol       Date:  1989-05       Impact factor: 5.330

7.  Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Authors:  T D Bird; J Ott; E R Giblett
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

8.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

9.  Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).

Authors:  T D Bird; J Ott; E R Giblett; P F Chance; S M Sumi; G H Kraft
Journal:  Ann Neurol       Date:  1983-12       Impact factor: 10.422

10.  The clinical features of hereditary motor and sensory neuropathy types I and II.

Authors:  A E Harding; P K Thomas
Journal:  Brain       Date:  1980-06       Impact factor: 13.501

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  3 in total

1.  Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.

Authors:  Matthew R Googins; Aigbirhemwen O Woghiren-Afegbua; Michael Calderon; Claudette M St Croix; Kirill I Kiselyov; Andrew P VanDemark
Journal:  FASEB J       Date:  2020-04-10       Impact factor: 5.834

2.  Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot-Marie-Tooth type 2A.

Authors:  Yi You; Xiaodong Wang; Shan Li; Xiuli Zhao; Xue Zhang
Journal:  Exp Ther Med       Date:  2018-07-24       Impact factor: 2.447

3.  Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Authors:  Silvia Cipriani; Vietxuan Phan; Jean-Jacques Médard; Rita Horvath; Hanns Lochmüller; Roman Chrast; Andreas Roos; Sally Spendiff
Journal:  Int J Mol Sci       Date:  2018-12-17       Impact factor: 5.923

  3 in total

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