No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

被引：6

作者：

Johnson, J

Ostojic, J

Lannfelt, L

Glaser, A

Basun, H

Rogaeva, E

Kawarai, T

Bruni, A

Hyslop, PHSG

Goate, A

Pastor, P

Chakraverty, S

Norton, J

Morris, JC

Hardy, J

Singleton, A

机构：

[1] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[3] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[4] Ctr Reg Neurogenet, I-88046 Lamezia Terme, CZ, Italy

[5] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON M5S 3H2, Canada

[6] Univ Uppsala Hosp, Dept Publ Hlth Geriatr, S-75125 Uppsala, Sweden

来源：

NEUROSCIENCE LETTERS | 2004年 / 363卷 / 02期

关键词：

MAPT; Tau; genetics; FTDP-17; alpha-synuclem;

D O I：

10.1016/j.neulet.2004.03.070

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Given the remarkable similarities between the genetics of tau diseases and the genetics of alpha-synuclein diseases, and given the fact that we have recently found a triplication of the alpha-synuclein locus in a family in which we had shown linkage to the alpha-synuclein locus, we determined to test whether some of the several families with autosomal dominant frontal temporal dementia which show genetic linkage to the tau locus but in which tau mutations have not been found could be caused by similar structural mutations. We did not find any such mutations. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：99 / 101

页数：3

共 18 条

[1] Association of an extended haplotype in the tau gene with progressive supranuclear palsy [J].

Baker, M ;

Litvan, I ;

Houlden, H ;

Adamson, J ;

Dickson, D ;

Perez-Tur, J ;

Hardy, J ;

Lynch, T ;

Bigio, E ;

Hutton, M .

HUMAN MOLECULAR GENETICS, 1999, 8 (04) :711-715

[2] Genetic evidence for the involvement of tau in progressive supranuclear palsy [J].

Conrad, C ;

Andreadis, A ;

Trojanowski, JQ ;

Dickson, DW ;

Kang, D ;

Chen, XH ;

Wiederholt, W ;

Hansen, L ;

Masliah, E ;

Thal, LJ ;

Katzman, R ;

Xia, Y ;

Saitoh, T .

ANNALS OF NEUROLOGY, 1997, 41 (02) :277-281

[3] A large Calabrian kindred segregating frontotemporal dementia [J].

Curcio, SAM ;

Kawarai, T ;

Paterson, AD ;

Maletta, RG ;

Puccio, G ;

Perri, M ;

Di Natale, M ;

Palermo, S ;

Foncin, JF ;

Hyslop, PHS ;

Bruni, AC .

JOURNAL OF NEUROLOGY, 2002, 249 (07) :911-922

[4] Extended investigation of tau and mutation screening of other candidate genes on chromosome 17q21 in a Swedish FTDP-17 family [J].

Fabre, SF ;

Axelman, P ;

Almkvist, Å ;

Basun, H ;

Lannfelt, L .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2003, 121B (01) :112-118

[5] α-synuclein gene haplotypes are associated with Parkinson's disease [J].

Farrer, M ;

Maraganore, DM ;

Lockhart, P ;

Singleton, A ;

Lesnick, TG ;

de Andrade, M ;

West, A ;

de Silva, R ;

Hardy, J ;

Hernandez, D .

HUMAN MOLECULAR GENETICS, 2001, 10 (17) :1847-1851

[6] From genetics to pathology:: tau and α-synuclein assemblies in neurodegenerative diseases [J].

Goedert, M ;

Spillantini, MG ;

Serpell, LC ;

Berriman, J ;

Smith, MJ ;

Jakes, R ;

Crowther, RA .

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES, 2001, 356 (1406) :213-227

[7] LEWY BODIES IN ALZHEIMERS-DISEASE IN WHICH THE PRIMARY LESION IS A MUTATION IN THE AMYLOID PRECURSOR PROTEIN [J].

HARDY, J .

NEUROSCIENCE LETTERS, 1994, 180 (02) :290-291

[8] Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype [J].

Houlden, H ;

Baker, M ;

Morris, HR ;

MacDonald, N ;

Pickering-Brown, S ;

Adamson, J ;

Lees, AJ ;

Rossor, MN ;

Quinn, NP ;

Kertesz, A ;

Khan, MN ;

Hardy, J ;

Lantos, PL ;

George-Hyslop, PS ;

Munoz, DG ;

Mann, D ;

Lang, AE ;

Bergeron, C ;

Bigio, EH ;

Litvan, I ;

Bhatia, KP ;

Dickson, D ;

Wood, NW ;

Hutton, M .

NEUROLOGY, 2001, 56 (12) :1702-1706

[9] Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 [J].

Hutton, M ;

Lendon, CL ;

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, RC ;

Stevens, M ;

de Graaff, E ;

Wauters, E ;

van Baren, J ;

Hillebrand, M ;

Joosse, M ;

Kwon, JM ;

Nowotny, P ;

Che, LK ;

Norton, J ;

Morris, JC ;

Reed, LA ;

Trojanowski, J ;

Basun, H ;

Lannfelt, L ;

Neystat, M ;

Fahn, S ;

Dark, F ;

Tannenberg, T ;

Dodd, PR ;

Hayward, N ;

Kwok, JBJ ;

Schofield, PR ;

Andreadis, A ;

Snowden, J ;

Craufurd, D ;

Neary, D ;

Owen, F ;

Oostra, BA ;

Hardy, J ;

Goate, A ;

van Swieten, J ;

Mann, D ;

Lynch, T .

NATURE, 1998, 393 (6686) :702-705

[10]

Krüger R, 1999, ANN NEUROL, V45, P611, DOI 10.1002/1531-8249(199905)45:5<611::AID-ANA9>3.0.CO

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