Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution: [review]
Rev. biol. trop
; Rev. biol. trop;52(3): 475-483, sept. 2004. tab
Article
em En
| LILACS
| ID: lil-501734
Biblioteca responsável:
BR1.1
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Proteína P0 da Mielina
/
Predisposição Genética para Doença
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
País/Região como assunto:
America central
/
Costa rica
Idioma:
En
Revista:
Rev. biol. trop
Assunto da revista:
BIOLOGIA
/
MEDICINA TROPICAL
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Costa Rica
País de publicação:
Costa Rica