Tau mutations altering splicing of tau exon 10 in japanese frontotemporal dementia

Recent studies have shown that mutations in the tau gene cause familial frontotempotal dementia and parkinsonism linked to chromosome 17 (FTDP-17) [1–5]. Known tau mutations are either intronic mutations located close to the splice-donor site of the intron following exon 10 or missense, deletion or silent mutations in the coding region. Here we describe two pathogenic mutations in the tau gene of Japanese patients with frontotemporal dementia and present the ensuing biochemical and morphological abnormalities.