Article
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
Nature - 18 Jun 1998
Hutton M, Lendon C L, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen R C, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon J M, Nowotny P, Che L K, Norton J, Morris J C, Reed L A, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd P R, Hayward N, Kwok J B, Schofield P R, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra B A, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P
Abstract excerpt
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. Most FTDP-17 cases show neuronal and/or glial inclusions that stain positively with antibodie...
Topics
- Alternative Splicing
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- Dementia
- Exons
- Female
- Humans
- Male
- Mutation