Abstract
Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here we describe a novel missense mutation in exon 12 of the tau gene, G335V, in a German family with frontotemporal dementia of early age at onset, in the third decade of life. Functional analysis of recombinant tau protein with the G335V mutation showed a dramatically reduced ability to promote microtubule assembly and a more rapid and accelerated tau filament formation, suggesting that the primary effect of the mutation might be the provision of a pool of unbound tau making it available for aberrant tau aggregation.
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Acknowledgements
We thank M. Goedert for the tau cDNAs. This work was supported by the Deutsche Forschungsgemeinschaft grant KFO 113/1 to H.A.K. and M.N.
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M. Neumann and S. Diekmann contributed equally to this work.
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Neumann, M., Diekmann, S., Bertsch, U. et al. Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. Neurogenetics 6, 91–95 (2005). https://doi.org/10.1007/s10048-005-0210-y
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DOI: https://doi.org/10.1007/s10048-005-0210-y