Biologia molecular nas doenças do neurônio motor

Autores

  • Edmar Zanoteli Professor Adjunto Substituto, Disciplina de Neurologia, UNIFESP
  • Ana Beatriz Alvarêz Peres Doutora em Medicina, Centro de Genética Médica, Departamento de Morfologia, UNIFESP
  • Acary Souza Bulle Oliveira Doutor em Neurologia, Chefe do Setor de Investigação em Doenças Neuromusculares, Disciplina de Neurologia, UNIFESP
  • Alberto Alain Gabbai Professor Titular, Chefe da Disciplina de Neurologia da UNIFESP

DOI:

https://doi.org/10.34024/rnc.2004.v12.8883

Palavras-chave:

Doenças do neurônio motor, Esclerose lateral amiotrófica, amiotrofia espinhal progressiva, Aspectos genéticos

Resumo

As motoneuronopatias correspondem a um grupo amplo de doenças caracterizadas pelo comprometimento dos neurônios motores superior, inferior ou ambos. Na criança a forma mais comum de motoneuronopatia é a amiotrofia espinhal progressiva, associada com mutações no gene SMN (sobrevida do neurônio motor) em mais de 90% dos casos. No adulto (doenças do neurônio motor), apenas uma percentagem menor que 15% dos casos correspondem a formas familiares. Neste grupo a forma mais comum está associada com mutações no gene da enzima superóxido dismutase (SOD1). No entanto, novos locus genéticos vêm sendo freqüentemente descritos nas formas de doença do neurônio motor do adulto. O objetivo deste trabalho é o de apresentar uma revisão da literatura dos conhecimentos atuais quanto aos aspectos genéticos das motoneuronopatias.

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Publicado

2004-03-31

Como Citar

Zanoteli, E., Peres, A. B. A., Oliveira, A. S. B., & Gabbai, A. A. (2004). Biologia molecular nas doenças do neurônio motor. Revista Neurociências, 12(1), 24–29. https://doi.org/10.34024/rnc.2004.v12.8883

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##plugins.generic.dates.published## 2004-03-31

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