Authors
Mike Hutton, Corinne L Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich, Henry Houlden, Stuart Pickering-Brown, Sumi Chakraverty, Adrian Isaacs, Andrew Grover, Jennifer Hackett, Jennifer Adamson, Sarah Lincoln, Dennis Dickson, Peter Davies, Ronald C Petersen, Martijn Stevens, Esther de Graaff, Erwin Wauters, Jeltje van Baren, Marcel Hillebrand, Marijke Joosse, Jennifer M Kwon, Petra Nowotny, Lien Kuei Che, Joanne Norton, John C Morris, Lee A Reed, John Trojanowski, Hans Basun, Lars Lannfelt, Michael Neystat, Stanley Fahn, Francis Dark, Tony Tannenberg, Peter R Dodd, Nick Hayward, John BJ Kwok, Peter R Schofield, Athena Andreadis, Julie Snowden, David Craufurd, David Neary, Frank Owen, Ben A Oostra, John Hardy, Alison Goate, John van Swieten, David Mann, Timothy Lynch, Peter Heutink
Publication date
1998/6/18
Journal
Nature
Volume
393
Issue
6686
Pages
702-705
Publisher
Nature Publishing Group UK
Description
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 antibodies raised against the microtubule-associated protein Tau, although the Tau pathology varies considerably in both its quantity (or severity) and characteristics,,,,,,,,. Previous studies have mapped the FTDP-17 locus to a 2-centimorgan region on chromosome 17q21.11; the tau gene also lies within this region. We have now sequenced tau in FTDP-17 families and identified three missense mutations (G272V, P301L and R406W) and three mutations in the 5′ splice site of exon 10. The splice-site mutations all destabilize a potential stem–loop structure which is probably involved in regulating the alternative …
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Scholar articles
M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich… - Nature, 1998