Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conference
Norman L. Foster,Kirk C. Wilhelmsen,Anders A. F. Sima,Anders A. F. Sima,Margaret Z. Jones,Constance J. D'Amato,Sid Gilman +6 more
TLDR
An international consensus conference on frontotemporal dementia, behavioral disturbances, and parkinsonism linked to chromosome 17 was held to determine whether these are homogeneous or heterogeneous disorders, to agree on terminology, and to develop strategies for further research.Abstract:
We held an international consensus conference on frontotemporal dementia, behavioral disturbances, and parkinsonism linked to chromosome 17 to determine whether these are homogeneous or heterogeneous disorders, to agree on terminology, and to develop strategies for further research. The group identified 13 kindreds with sufficient evidence for linkage, finding in common to all a critical 2 cM between markers D17S791 and D17S800. There was agreement that (1) despite previous descriptions that have emphasized one or another clinical or neuropathological feature, the kindreds share clinical and neuropathological features; (2) until more specific information about the genetic defects becomes available, this disorder is best termed frontotemporal dementia and parkinsonism linked to chromosome 17; and (3) further research will be enhanced by identifying the gene or genes responsible for this disorder, detecting additional cases within known families and, in new families, correlating mutations with phenotypes and more fully delineating the clinical, neuropsychological, and neuropathological characteristics of this disorder.read more
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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Mike Hutton,Corinne Lendon,Patrizia Rizzu,Matt Baker,Susanne Froelich,Susanne Froelich,Henry Houlden,Stuart Pickering-Brown,Sumitra Chakraverty,Adrian M. Isaacs,Andrew Grover,J. Hackett,Jennifer Adamson,Sarah Lincoln,Dennis W. Dickson,Peter Davies,Ronald C. Petersen,M. Stevens,E. De Graaff,E. Wauters,J. Van Baren,M. Hillebrand,Marijke Joosse,J. M. Kwon,Petra Nowotny,Lien Kuei Che,Joanne Norton,John C. Morris,L. A. Reed,John Q. Trojanowski,Hans Basun,Lars Lannfelt,M. Neystat,Stanley Fahn,Frances Dark,Tony Tannenberg,Peter R. Dodd,Nicholas K. Hayward,John B.J. Kwok,Peter R. Schofield,Athena Andreadis,Julie S. Snowden,David Craufurd,David Neary,F. Owen,Ben A. Oostra,John Hardy,Alison Goate,J. C. van Swieten,David M. A. Mann,Timothy Lynch,Peter Heutink +51 more
TL;DR: In this paper, the authors 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 in
Journal ArticleDOI
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders
TL;DR: Tau proteins are the major constituents of intraneuronal and glial fibrillar lesions described in Alzheimer's disease and numerous neurodegenerative disorders referred as 'tauopathies' as discussed by the authors.
Journal ArticleDOI
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Matt Baker,Ian R. A. Mackenzie,Stuart Pickering-Brown,Jennifer Gass,Rosa Rademakers,Caroline Lindholm,Julie S. Snowden,Jennifer Adamson,A. Dessa Sadovnick,Sara Rollinson,Ashley Cannon,Emily Dwosh,David Neary,Stacey Melquist,Anna Richardson,Dennis W. Dickson,Zdenek Berger,Jason L. Eriksen,Todd Robinson,Cynthia Zehr,Chad A. Dickey,Richard Crook,Eileen McGowan,David M. A. Mann,Bradley F. Boeve,Howard Feldman,Mike Hutton +26 more
TL;DR: It is demonstrated that in multiple FTD families with significant evidence for linkage to the same region on chromosome 17q21, FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles and identified mutations in PGRN as a cause of neurodegenerative disease.
Journal ArticleDOI
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
Maria Grazia Spillantini,Jill R. Murrell,Michel Goedert,Martin R. Farlow,Aaron Klug,Bernardino Ghetti +5 more
TL;DR: The results show that dysregulation of tau protein production can cause neurodegeneration and imply that the FTDP-17 gene is the tau gene, which has major implications for Alzheimer's disease and other tauopathies.
Journal ArticleDOI
Tau is a candidate gene for chromosome 17 frontotemporal dementia.
Parvoneh Poorkaj,Thomas D. Bird,Ellen M. Wijsman,Ellen Nemens,Ralph M. Garruto,Leojean Anderson,Athena Andreadis,W. C. Wiederholt,Murray A. Raskind,Gerard D. Schellenberg +9 more
TL;DR: Three lines of evidence indicate that the Val279Met change is an FTDP‐17 causative mutation, and normal valine is found at this position in all three tau interrepeat sequences and in other microtubule associated protein tau homologues.
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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
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