Genética das Distonias

Autores

  • Patrícia Maria de Carvalho Aguiar Mestra em Neurologia pela Escola Paulista de Medicina – Unifesp
  • Henrique Ballalai Ferraz Doutor em Neurologia e Chefe do Setor de Distúrbios do Movimento da Disciplina de Neurologia da Escola Paulista de Medicina – Unifesp

DOI:

https://doi.org/10.34024/rnc.2000.v8.8946

Palavras-chave:

Distonia, genética, DYT1, distonia doparresponsiva

Resumo

As síndromes distônicas apresentam uma grande variabilidade clínica e genética. Hoje, existe uma tendência crescente à classificação genética das formas hereditárias de distonia. O avanço das técnicas de biologia molecular vem permitindo o mapeamento genético e alguns tipos de distonia já tiveram os seus respectivos genes identificados, como a distonia primária ligada ao DYT1 e a distonia doparresponsiva. Apresentamos uma breve revisão sobre os aspectos clínicos e genéticos de algumas formas hereditárias de distonia, enfatizando aquelas nas quais a distonia apresenta-se como sintoma único ou predominante.

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Publicado

2000-06-30

Como Citar

Aguiar, P. M. de C., & Ferraz, H. B. (2000). Genética das Distonias. Revista Neurociências, 8(2), 66–69. https://doi.org/10.34024/rnc.2000.v8.8946

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