SciELO - Scientific Electronic Library Online

vol.52 issue3Genética de la esquizofrenia: avances en el estudio de genes candidatosThe dystrophinopathies in Costa Rica author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Revista de Biología Tropical

On-line version ISSN 0034-7744Print version ISSN 0034-7744


LEAL, Alejandro. Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution. Rev. biol. trop [online]. 2004, vol.52, n.3, pp.475-483. ISSN 0034-7744.

Hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth disease (CMT) is the most common hereditary illness of the peripheral nervous system. The genetics and the physiopathological aspects of the disease clarified until know, are here summarized. More than twenty genes and ten additional loci have been related with HMSN. These findings contribute to understand the metabolism of peripheral nerves and give the basis for molecular diagnostics and future therapy. Several Costa Rican families with CMT have been identified, specially with axonal forms. Two families present mutations in the myelin protein zero gene (MPZ). In addition, linkage have been found between the disease and locus 19q13.3 in an extended family, and a mutation segregating with the disease is present in a candidate gene of the critical interval. Costa Rica has several advantages for genetical studies, that can contribute importantly in the generation of knowledge in the neurogenetical field. Rev. Biol. Trop. 52(3): 475-483. Epub 2004 Dic 15.

Keywords : Charcot-Marie-Tooth disease; CMT; HMSN; Genetics; Costa Rica.

        · abstract in Spanish     · text in English


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License