Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.

  title={Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.},
  author={Maria Grazia Spillantini and J Bakker EP Jurasek L Murray RGE Tempest DW Baldwin Murrell and Michel Goedert and Martin R. Farlow and Aaron Klug and Bernardino Ghetti},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  volume={95 13},
Familial multiple system tauopathy with presenile dementia (MSTD) is a neurodegenerative disease with an abundant filamentous tau protein pathology. It belongs to the group of familial frontotemporal dementias with Parkinsonism linked to chromosome 17 (FTDP-17), a major class of inherited dementing disorders whose genetic basis is unknown. We now report a G to A transition in the intron following exon 10 of the gene for microtubule-associated protein tau in familial MSTD. The mutation is… CONTINUE READING
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