Article
Phenotypic variation in hereditary frontotemporal dementia with tau mutations.
Annals of neurology - 1 Oct 1999
van Swieten J C, Stevens M, Rosso S M, Rizzu P, Joosse M, de Koning I, Kamphorst W, Ravid R, Spillantini M G, Niermeijer, Heutink P
Abstract excerpt
Several mutations in the tau gene have been found in families with hereditary frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17). This study is the first attempt to correlate genotype and phenotype in six families with FTDP-17 with mutations in the tau gene (deltaK280, G272V, P301L, and R406W). We have investigated tau pathology in 1 P301L and 1 R406W patient. The R406W family showed...
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