Biologia molecular nas doenças do neurônio motor
DOI:
https://doi.org/10.34024/rnc.2004.v12.8883Palavras-chave:
Doenças do neurônio motor, Esclerose lateral amiotrófica, amiotrofia espinhal progressiva, Aspectos genéticosResumo
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
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