A PHP Error was encountered

Severity: Warning

Message: Creating default object from empty value

Filename: models/publicacao_item.php

Line Number: 20

MAPT V363I Variation in a Sporadic Case of Frontotemporal Dementia:... » Isaúde
  Pesquisar Publicações Científicas  
  Especialidade: carregando especialidades...  Carregando...
Nome da revista:   Volume:   Número:
Alzheimer Disease and Associated Disorders
2011-01-01 00:00:00

MAPT V363I Variation in a Sporadic Case of Frontotemporal Dementia: Variable Penetrant Mutation or Rare Polymorphism?

Descrição: The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. Herein, we report the finding of the V363I variation in a sporadic early onset frontotemporal dementia patient and in several members of her family. The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene. The microtubule-associated protein tau V363I variation could be considered either an incomplete penetrant mutation or a rare polymorphism; although its pathogenicity has yet to be clearly demonstrated, modifier genetic factors seem to contribute to the pathogenic effects observed in the patient underlining the great complexity existing in neurodegenerative diseases and questioning so-called sporadic cases that can potentially be caused by gene mutation.

Seção: Brief Reports
Volume: 0
Autor: Kusbeci, Ozge Yilmaz; Miman, Ozlem; Yaman, Mehmet; Aktepe, Orhan Cem; Yazar, Suleyman

Mais informações

  • Twitter iSaúde
Jornal Informe Saúde

Indique o portal
Fechar [X]
  • Você está indicando a notícia: http://www.isaude.net
  • Para que seu amigo(a) receba esta indicação preencha os dados abaixo:

RSS notícias do portal  iSaúde.net
Receba o newsletter do portal  iSaúde.net
Indique o portal iSaúde.net
Notícias do  iSaúde.net em seu blog ou site.
Receba notícias com assunto de seu interesse.
© 2000-2011 www.isaude.net Todos os direitos reservados.