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[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Neurologia. 2012 Apr; 27(3):169-78.N

Abstract

INTRODUCTION

Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV > 38 m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40 m/s). In spite of its stereotyped semiological repertoire (basically, symptoms and signs of sensory-motor polyneuropathy and pes cavus), CMT seems to be one of the most complex hereditary neurodegenerative syndromes, 31 causative genes having been cloned.

DEVELOPMENT

This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. Genetic epidemiological studies and genotypes reported in Spanish patients are revised.

CONCLUSIONS

In the great majority of CMT cases, mutations involve a reduced number of genes, namely: for CMT1, PMP22, GJB1 and MPZ; for CMT2, MFN2 and GJB1; for CMT4, GDAP1, and NDRG1, HK1 and SH3TC2 (gypsies); for AR-CMT2, GDAP1; and for DI-CMT, GJB1 and MPZ. Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones. There is no place for the indiscriminate use of diagnostic CMT genetic panels.

Authors+Show Affiliations

Servicio de Neurología, Hospital Universitario Marqués de Valdecilla (IFIMAV), Universidad de Cantabria, CIBERNED, Santander, España. jaberciano@humv.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

spa

PubMed ID

21703725

Citation

Berciano, J, et al. "[Guidelines for Molecular Diagnosis of Charcot-Marie-Tooth Disease]." Neurologia (Barcelona, Spain), vol. 27, no. 3, 2012, pp. 169-78.
Berciano J, Sevilla T, Casasnovas C, et al. [Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. Neurologia. 2012;27(3):169-78.
Berciano, J., Sevilla, T., Casasnovas, C., Sivera, R., Vílchez, J. J., Infante, J., Ramón, C., Pelayo-Negro, A. L., & Illa, I. (2012). [Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. Neurologia (Barcelona, Spain), 27(3), 169-78. https://doi.org/10.1016/j.nrl.2011.04.015
Berciano J, et al. [Guidelines for Molecular Diagnosis of Charcot-Marie-Tooth Disease]. Neurologia. 2012;27(3):169-78. PubMed PMID: 21703725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease]. AU - Berciano,J, AU - Sevilla,T, AU - Casasnovas,C, AU - Sivera,R, AU - Vílchez,J J, AU - Infante,J, AU - Ramón,C, AU - Pelayo-Negro,A L, AU - Illa,I, AU - ,, Y1 - 2011/06/23/ PY - 2011/04/13/received PY - 2011/04/14/accepted PY - 2011/6/28/entrez PY - 2011/6/28/pubmed PY - 2012/8/8/medline SP - 169 EP - 78 JF - Neurologia (Barcelona, Spain) JO - Neurologia VL - 27 IS - 3 N2 - INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor conduction velocity (MCV) of the median nerve, CMT encompasses five main forms: CMT1 (autosomal dominant [AD] or X-linked transmission and MCV < 38 m/s); CMT2 (AD or X-linked transmission and MCV > 38 m/s); CMT4 (autosomal recessive [AR] and severe slowing of MCV); AR-CMT2 (AR transmission and MCV > 38 m/s); and DI-CMT (intermediate form with AD transmission and MCV between 30 and 40 m/s). In spite of its stereotyped semiological repertoire (basically, symptoms and signs of sensory-motor polyneuropathy and pes cavus), CMT seems to be one of the most complex hereditary neurodegenerative syndromes, 31 causative genes having been cloned. DEVELOPMENT: This paper is aimed at performing a nosological review of the disease, emphasising the guidelines for its molecular diagnosis. Genetic epidemiological studies and genotypes reported in Spanish patients are revised. CONCLUSIONS: In the great majority of CMT cases, mutations involve a reduced number of genes, namely: for CMT1, PMP22, GJB1 and MPZ; for CMT2, MFN2 and GJB1; for CMT4, GDAP1, and NDRG1, HK1 and SH3TC2 (gypsies); for AR-CMT2, GDAP1; and for DI-CMT, GJB1 and MPZ. Given their low prevalence, mutations in other pathogenic genes should be investigated after discarding the previous ones. There is no place for the indiscriminate use of diagnostic CMT genetic panels. SN - 1578-1968 UR - https://www.unboundmedicine.com/medline/citation/21703725/[Guidelines_for_molecular_diagnosis_of_Charcot_Marie_Tooth_disease]_ L2 - http://www.elsevier.es/en/linksolver/ft/pii/S0213-4853(11)00227-1 DB - PRIME DP - Unbound Medicine ER -