Article
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.
Annals of neurology - 1 Nov 2003
van Herpen Esther, Rosso Sonia M, Serverijnen Lies-Anne, Yoshida Hirotaka, Breedveld Guido, van de Graaf Raoul, Kamphorst Wouter, Ravid Rivka, Willemsen Rob, Dooijes Dennis, Majoor-Krakauer Daniëlle, Kros Johan M, Crowther R Anthony, Goedert Michel, Heutink Peter, van Swieten John C
Abstract excerpt
Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe two Dutch families with familial frontotemporal dementia associated with the novel missense mutation L315R in exon 11 of tau. The age at onset of disease showed a large var...
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