Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau

Citation
O. Bugiani et al., Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau, J NE EXP NE, 58(6), 1999, pp. 667-677
Citations number
49
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Neurosciences & Behavoir
Journal title
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
ISSN journal
0022-3069 → ACNP
Volume
58
Issue
6
Year of publication
1999
Pages
667 - 677
Database
ISI
SICI code
0022-3069(199906)58:6<667:FDACDI>2.0.ZU;2-8
Abstract
The tau gene has been found to be the locus of dementia with rigidity linke d 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 indivi dual presented with frontotemporal dementia, whereas his son has corticobas al degeneration, demonstrating that the same primary gene defect in tau can lead to 2 distinct clinical phenotypes. Both individuals developed rapidly progressive disease in the third decade. Neuropathologically, the father p resented with an extensive filamentous pathology made of hyperphosphorylate d tau protein. Biochemically, recombinant tau protein with the P301S mutati on showed a greatly reduced ability to promote microtubule assembly.