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A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy

Grover, A ; England, E ; Baker, M ; Sahara, N ; Adamson, J ; Granger, B ; Houlden, H ; Passant, Ulla LU ; Yen, SH and DeTure, M , et al. (2003) In Experimental Neurology 184(1). p.131-140
Abstract
A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the... (More)
A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
neurodegeneration, dementia, pick body, glial tau, axonal, microtubule assembly, aggregation, isoform, tau, four-repeat
in
Experimental Neurology
volume
184
issue
1
pages
131 - 140
publisher
Elsevier
external identifiers
  • wos:000186804800018
  • pmid:14637086
  • scopus:0345689371
ISSN
0014-4886
DOI
10.1016/S0014-4886(03)00393-5
language
English
LU publication?
yes
additional info
The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Pathology, (Lund) (013030000), Department of Psychogeriatrics (013304000)
id
1d358115-738c-4f46-8cd3-ac69e2daf211 (old id 294573)
date added to LUP
2016-04-01 12:32:05
date last changed
2022-01-27 06:22:01
@article{1d358115-738c-4f46-8cd3-ac69e2daf211,
  abstract     = {{A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau.}},
  author       = {{Grover, A and England, E and Baker, M and Sahara, N and Adamson, J and Granger, B and Houlden, H and Passant, Ulla and Yen, SH and DeTure, M and Hutton, M}},
  issn         = {{0014-4886}},
  keywords     = {{neurodegeneration; dementia; pick body; glial tau; axonal; microtubule assembly; aggregation; isoform; tau; four-repeat}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{131--140}},
  publisher    = {{Elsevier}},
  series       = {{Experimental Neurology}},
  title        = {{A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy}},
  url          = {{http://dx.doi.org/10.1016/S0014-4886(03)00393-5}},
  doi          = {{10.1016/S0014-4886(03)00393-5}},
  volume       = {{184}},
  year         = {{2003}},
}