A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
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.
Rosso
Sonia M
SM
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
van Herpen
Esther
E
Deelen
Wout
W
Kamphorst
Wouter
W
Severijnen
Lies-Anne
LA
Willemsen
Rob
R
Ravid
Rivka
R
Niermeijer
Martinus F
MF
Dooijes
Dennis
D
Smith
Michael J
MJ
Goedert
Michel
M
Heutink
Peter
P
van Swieten
John C
JC
D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000000981:diagnostic imaging*; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000187:drug effects / Q000502:physiology; D020125:Mutation, Missense / Q000502:physiology*; D020774:Pick Disease of the Brain / Q000473:pathology*; D011994:Recombinant Proteins / Q000494:pharmacology; D014463:Ultrasonography; D016875:tau Proteins / Q000235:genetics* / Q000494:pharmacology
D011994:Recombinant Proteins; D016875:tau Proteins; D004247:DNA