A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies.

@article{Spillantini2000ANT,
  title={A novel tau mutation (N296N) in familial dementia with swollen achromatic neurons and corticobasal inclusion bodies.},
  author={Maria Grazia Spillantini and Hirotaka Yoshida and Carlos Toledo Rizzini and Peter L. Lantos and Naheed Zia Khan and Martin Rossor and Michel Goedert and Joanne McDaid Robert L. Brown},
  journal={Annals of neurology},
  year={2000},
  volume={48 6},
  pages={939-43}
}
Familial dementia with swollen achromatic neurons and corticobasal inclusion bodies is a neurodegenerative disease that resembles corticobasal degeneration. It is characterized by the presence of abundant neuronal and glial tau protein deposits. Here we describe a novel silent mutation in exon 10 of tau (N296N) in this familial dementia. By exon trapping, the mutation produced an increase in the splicing in of exon 10, indicating that it probably causes disease through an overproduction of four… CONTINUE READING

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