Article
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.
Brain : a journal of neurology - 1 Apr 2002
Pickering-Brown S M, Richardson A M T, Snowden J S, McDonagh A M, Burns A, Braude W, Baker M, Liu W-K, Yen S-H, Hardy J, Hutton M, Davies Y, Allsop D, Craufurd D, Neary D, Mann D M A
Abstract excerpt
Genetic screening of 171 patients with frontotemporal lobar degeneration disclosed 14 patients, across nine pedigrees, with mutations in the intron to exon 10 in the tau gene, a region regulating the splicing of exon 10 via a stem loop mechanism. Thirteen of these patients had the +16 splice site mutation and one had the +13 splice site mutation. Affected members of all nine families presented with changes in...
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