Article
A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy.
Experimental neurology - 1 Nov 2003
Grover Andrew, England Elisabet, Baker Mathew, Sahara Naruhiko, Adamson Jennifer, Granger Brian, Houlden Henry, Passant Ulla, Yen Shu-Hui, DeTure Michael, Hutton Michael
Abstract excerpt
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...
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