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A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
Author(s) -
Rosso Sonia M.,
Van Herpen Esther,
Deelen Wout,
Kamphorst Wouter,
Severijnen LiesAnne,
Willemsen Rob,
Ravid Rivka,
Niermeijer Martinus F.,
Dooijes Dennis,
Smith Michael J.,
Goedert Michel,
Heutink Peter,
Van Swieten John C.
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10140
Subject(s) - tauopathy , missense mutation , proband , frontotemporal dementia , exon , dementia , parkinsonism , mutation , tau protein , genetics , disease , biology , medicine , gene , alzheimer's disease , pathology , neurodegeneration
Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. To our knowledge, it is the first mutation to be described in exon 11 of tau . The proband died at age 53 years, after a disease duration of 15 years, and autopsy revealed a neuropathological picture similar to Pick's disease. Recombinant tau protein with the S320F mutation showed a greatly reduced ability to promote microtubule assembly.