A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

Sonia M. Rosso; Esther Van Herpen; Wout Deelen; Wouter Kamphorst; Lies Anne Severijnen; Rob Willemsen; Rivka Ravid Martinus F Niermeijer; Dennis Dooijes; Michael J. Smith; Michel Goedert; Peter Heutink; John C. Van Swieten

doi:10.1002/ana.10140

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

Sonia M. Rosso, Esther Van Herpen, Wout Deelen, Wouter Kamphorst, Lies Anne Severijnen, Rob Willemsen, Rivka Ravid Martinus F Niermeijer, Dennis Dooijes, Michael J. Smith, Michel Goedert, Peter Heutink, John C. Van Swieten^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

56 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	373-376
Number of pages	4
Journal	Annals of Neurology
Volume	51
Issue number	3
DOIs	https://doi.org/10.1002/ana.10140
Publication status	Published - 19 Mar 2002

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title = "A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease",

abstract = "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.",

author = "Rosso, {Sonia M.} and {Van Herpen}, Esther and Wout Deelen and Wouter Kamphorst and Severijnen, {Lies Anne} and Rob Willemsen and Niermeijer, {Rivka Ravid Martinus F} and Dennis Dooijes and Smith, {Michael J.} and Michel Goedert and Peter Heutink and {Van Swieten}, {John C.}",

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T1 - A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

AU - Rosso, Sonia M.

AU - Van Herpen, Esther

AU - Deelen, Wout

AU - Kamphorst, Wouter

AU - Severijnen, Lies Anne

AU - Willemsen, Rob

AU - Niermeijer, Rivka Ravid Martinus F

AU - Dooijes, Dennis

AU - Smith, Michael J.

AU - Goedert, Michel

AU - Heutink, Peter

AU - Van Swieten, John C.

PY - 2002/3/19

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N2 - 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.

AB - 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.

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JO - Annals of Neurology

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A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease

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