Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth

Translated title of the contribution: Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease

J. Berciano*, T. Sevilla, C. Casasnovas, R. Sivera, J. J. Vílchez, J. Infante, C. Ramón, A. L. Pelayo-Negro, I. Illa

*Corresponding author for this work

Research output: Other contribution

20 Citations (Scopus)


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.

Translated title of the contributionGuidelines for molecular diagnosis of Charcot-Marie-Tooth disease
Original languageSpanish
Number of pages10
Publication statusPublished - Apr 2012

Publication series

ISSN (Print)0213-4853


Dive into the research topics of 'Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease'. Together they form a unique fingerprint.

Cite this