Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution: [review]
Rev. biol. trop
;
52(3): 475-483, sept. 2004. tab
Artigo
em Inglês
| LILACS
| ID: lil-501734
ABSTRACT
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 (IMPZ). 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Proteína P0 da Mielina
/
Predisposição Genética para Doença
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
América Central
/
Costa Rica
Idioma:
Inglês
Revista:
Rev. biol. trop
Assunto da revista:
Biologia
/
Medicina Tropical
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Costa Rica
Instituição/País de afiliação:
Universidad de Costa Rica/CR
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