Fenótipos Raros de Neuropatia Hereditária

Charcot-Marie-Tooth Tipo 4

Autores

  • Francisco de Assis Aquino Gondim Neurologista, Doutor, Professor Adjunto da Universidade Federal do Ceará, Fortaleza, Ceará, Brasil.
  • Ítalo Sérgio Cavalcante Oliveira Graduando em Medicina da Universidade Federal do Ceará (UFC)/Fortaleza, Ceará, Brasil.
  • Davi Farias de Araújo gondimfranc@gmail.com
  • Florian Patrick Thomas Neurologista, Doutor, Professor Titular do Departamento de Neurologia e Psiquiatria da Saint Louis University, Saint Louis, Missouri, EUA.

DOI:

https://doi.org/10.34024/rnc.2014.v22.8121

Palavras-chave:

Desmielinização, Doença de Charcot-Marie-Tooth, Neuropatia Desmielinizante, Neuropatia Periférica

Resumo

Introdução. A Doença de Charcot-Marrie-Tooth (CMT) compre­ende um grupo geneticamente heterogêneo de neuropatias sensitivo­-motoras hereditárias autossômicas dominantes, recessivas e ligadas ao cromossomo X. Objetivo. O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (va­riantes desmielinizantes autossômicas recessivas de CMT). Método. Foi realizada uma ampla revisão de literatura buscando artigos origi­nais em inglês (ou pelo menos com resumo em inglês), com descrição das características clínicas, distribuição étnica e geográfica das diversas variantes de CMT4 através das ferramentas OMIM e pubmed da base de dados da NCBI. Resultados. Identificamos e descrevemos os genes, características clínicas, distribuição étnica e geográfica de 12 variantes de CMT4: A, B1, B2, B3, C, D, E, F, G, H, J e “L” (mutação do gene SURF, com nomenclatura ainda indefinida e aqui chamada de “CMT4L”). Conclusão. Conclui-se que CMT4, dada à herança au­tossômica recessiva, distribui-se mais comumente em grupos étnicos e regiões geográficas restritas, ao contrário dos outros subtipos de CMT. Apesar de extrema variabilidade, há tendência à presença de fenótipos de maior gravidade e sobreposição com as doenças de Déjèrine-Sottas (CMT3) e neuropatia hipomielinizante congênita (CHN).

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Publicado

2014-03-31

Como Citar

Gondim, F. de A. A., Oliveira, Ítalo S. C., Araújo, D. F. de, & Thomas, F. P. (2014). Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4. Revista Neurociências, 22(1), 84–94. https://doi.org/10.34024/rnc.2014.v22.8121

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