Article
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
Journal of neuropathology and experimental neurology - 1 Jun 1999
Bugiani O, Murrell J R, Giaccone G, Hasegawa M, Ghigo G, Tabaton M, Morbin M, Primavera A, Carella F, Solaro C, Grisoli M, Savoiardo M, Spillantini M G, Tagliavini F, Goedert M, Ghetti B
Abstract excerpt
The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. Exonic and intronic mutations have been described in a number of families. Here we describe a P301S mutation in exon 10 of the tau gene in a new family. Two members of this family were affected. One individual presented with frontotemporal dementia, whereas his son has corticobasal degeneration, demonstrating that the...
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