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Autosomal Recessive Charcot-Marie-Tooth Neuropathy

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Book cover Neurodegenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 724))

Abstract

Charcot-Marie-Tooth (CMT) disease, a hereditary motor and sensory neuropathy that comprises a complex group of more than 50 diseases, is the most common inherited neuropathy. CMT is generally divided into demyelinating forms, axonal forms and intermediate forms. CMT is also characterized by a wide genetic heterogeneity with 29 genes and more than 30 loci involved. The most common pattern of inheritance is autosomal dominant (AD), although autosomal recessive (AR) forms are more frequent in Mediterranean countries. In this chapter we give an overview of the associated genes, mechanisms and epidemiology of AR-CMT forms and their associated phenotypes.

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Authors and Affiliations

  1. Unit 732, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain

    Carmen Espinós, Eduardo Calpena, Dolores Martínez-Rubio & Vincenzo Lupo

  2. Unit of Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain

    Eduardo Calpena, Dolores Martínez-Rubio & Vincenzo Lupo

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  1. Carmen Espinós
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  2. Eduardo Calpena
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  3. Dolores Martínez-Rubio
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  4. Vincenzo Lupo
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Correspondence to Carmen Espinós .

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  1. School of Science and Technology, Nottingham Trent University, Nottingham, UK

    Shamim I. Ahmad BSc, MSc, PhD

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Espinós, C., Calpena, E., Martínez-Rubio, D., Lupo, V. (2012). Autosomal Recessive Charcot-Marie-Tooth Neuropathy. In: Ahmad, S.I. (eds) Neurodegenerative Diseases. Advances in Experimental Medicine and Biology, vol 724. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-0653-2_5

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