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References (40)
-
V. Campuzano, L. Montermini, Y. Lutz, L. Cova, C. Hindelang, Sarn Jiralerspong, Y. Trottier, S. Kish, B. Faucheux, P. Trouillas, F. Authier, A. Durr, J. Mandel, A. Vescovi, M. Pandolfo, M. Pandolfo, M. Koenig (1997)
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.Human molecular genetics, 6 11
-
S. Gydesen, S. Hagen, L. Klinken, J. Abelskov, S. Sørensen (1987)
Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick diseaseActa Psychiatrica Scandinavica, 76
-
P. Skinner, B. Koshy, C. Cummings, I. Klement, K. Helin, A. Servadio, H. Zoghbi, H. Orr (1997)
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structuresNature, 389
-
B. Berg (1996)
Principles of Child Neurology -
G. Imbert, F. Saudou, G. Yvert, D. Devys, Y. Trottier, J. Garnier, C. Weber, J. Mandel, G. Cancel, N. Abbas, A. Dürr, O. Didierjean, G. Stevanin, Y. Agid, A. Brice (1996)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsNature Genetics, 14
-
S. Davies, M. Turmaine, Barbara Cozens, M. Difiglia, A. Sharp, C. Ross, E. Scherzinger, E. Wanker, L. Mangiarini, G. Bates (1997)
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD MutationCell, 90
-
K. Lindblad, A. Lunkes, P. Maciel, G. Stevanin, C. Zander, T. Klockgether, T. Ratzlaff, A. Brice, G. Rouleau, T. Hudson, G. Auburger, M. Schalling (1996)
Mutation Detection in Machado-Joseph Disease Using Repeat Expansion DetectionMolecular Medicine, 2
-
C. Ross (1995)
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseasesNeuron, 15
-
A. Verkerk, M. Pieretti, J. Sutcliffe, Ying-Hui Fu, D. Kuhl, A. Pizzuti, O. Reiner, S. Richards, Maureen Victoria, Fuping Zhang, Bert Eussen, G. Ommen, L. Blonden, G. Riggins, J. Chastain, Catherine Kunst, H. Galjaard, C. Caskey, D. Nelson, B. Oostra, S. Warren (1991)
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeCell, 65
-
P. Giunti, G. Sabbadini, M. Sweeney, M. Davis, L. Veneziano, E. Mantuano, A. Federico, R. Plasmati, M. Frontali, N. Wood (1998)
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.Brain : a journal of neurology, 121 ( Pt 3)
-
J. Gécz, A. Gedeon, G. Sutherland, J. Mulley (1996)
Identification of the gene FMR2, associated with FRAXE mental retardationNature Genetics, 13
-
A. Ashworth, J. Brown, S. Gydesen, S. Sorensen, M. Rossor, J. Hardy, J. Collinge (1995)
Frontal lobe or `nonspecific' dementias are genetically heterogeneousNeurology, 45
-
Norman Foster, K. Wilhelmsen, Anders Sima, Margaret Jones, C. D'Amato, S. Gilman (1997)
Frontotemporal dementia and parkinsonism linked to chromosome 17: A consensus conferenceAnnals of Neurology, 41
-
M. Schalling, T. Hudson, K. Buetow, D. Housman (1993)
Direct detection of novel expanded trinucleotide repeats in the human genomeNature Genetics, 4
-
O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D. Stockton, C. Amos, W. Dobyns, S. Subramony, H. Zoghbi, Cheng Lee (1997)
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 15
-
(1996)
Isolation of candidate genes for autosomal dominant cerebellar ataxia type II (abstract) -
M. Difiglia, E. Sapp, K. Chase, S. Davies, G. Bates, J. Vonsattel, N. Aronin (1997)
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain.Science, 277 5334
-
K. Wilhelmsen, T. Lynch, E. Pavlou, M. Higgins, T. Nygaard (1994)
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.American journal of human genetics, 55 6
-
J. Gastier, T. Brody, J. Pulido, T. Businga, S. Sunden, X. Hu, S. Maitra, K. Buetow, J. Murray, V. Sheffield, M. Boguski, G. Duyk, T. Hudson (1996)
Development of a screening set for new (CAG/CTG)n dynamic mutations.Genomics, 32 1
-
Jørgen Nielsen, P. Koefoed, Kathrine Abell, L. Hasholt, Hans Eiberg, Kirsten Fenger, Erik Niebuhr, S. Sørensen (1997)
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.Human molecular genetics, 6 11
-
Jerry Brown, A. Ashworth, S. Gydesen, Asger Sorensen, M. Rossor, John Hardy, J. Collinge (1995)
Familial non-specific dementia maps to chromosome 3.Human molecular genetics, 4 9
-
M. Spillantini, J. Murrell, M. Goedert, M. Farlow, Aaron Klug, B. Ghetti (1998)
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia.Proceedings of the National Academy of Sciences of the United States of America, 95 13
-
N. Ranen, Colin Stine, Margaret Abbott, M. Sherr, '. Codori, M. Franz, '. Nientzu, '. Chung, N. Pleasant, Colleen Callahan, L. Kasch, Manely Ghaffari, Gary Chase, H. Kazazian, Jason Brandt, S. Folstein, Christopher Ross (1995)
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.American journal of human genetics, 57 3
-
D. Neary, J. Snowden, B. Northen, P. Goulding (1988)
Dementia of frontal lobe type.Journal of Neurology, Neurosurgery & Psychiatry, 51
-
G. Stevanin, Y. Trottier, G. Cancel, A. Durr, Gilles David, O. Didierjean, K. Bürk, G. Imbert, F. Saudou, Myriem Abada-Bendib, I. Gourfinkel‐An, A. Benomar, N. Abbas, T. Klockgether, D. Grid, Y. Agid, J. Mandel, A. Brice (1996)
Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.Human molecular genetics, 5 12
-
S. Hofferbert, N. Schanen, F. Chehab, U. Francke (1997)
Trinucleotide repeats in the human genome: size distributions for all possible triplets and detection of expanded disease alleles in a group of Huntington disease individuals by the repeat expansion detection method.Human molecular genetics, 6 1
-
(1994)
Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups.Journal of Neurology, Neurosurgery & Psychiatry, 57
-
Jeremy Brown, S. Gydesen, S. Sørensen, A. Brun, Simon Smith, H. Houlden, R. Twells, M. Mullan, M. Rossor, J. Collinge, M. Palmer, A. Goate, J. Hardy (1993)
Genetic characterization of a familial non-specific dementia originating in Jutland, DenmarkJournal of the Neurological Sciences, 114
-
S. Froelich, H. Basun, C. Forsell, L. Lilius, K. Axelman, A. Andreadis, L. Lannfelt (1997)
Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21.American journal of medical genetics, 74 4
-
Gilles avid, A. Dürr, Giovanni evanin, G. Cancel, N. Abbas, A. Benomar, S. Belal, A. Lèbre, Myriem Abada-Bendib, D. Grid, M. Holmberg, M. Yahyaoui, F. Hentati, T. Chkili, Y. Agid, A. Brice (1998)
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).Human molecular genetics, 7 2
-
J. Murrell, Daniel Koller, T. Foroud, Michel Goedert, M. Spillantini, H. Edenberg, Martin Farlow, B. Ghetti (1997)
Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17.American journal of human genetics, 61 5
-
Y. Trottier, Y. Lutz, G. Stevanin, G. Imbert, D. Devys, G. Cancel, F. Saudou, C. Weber, Gilles David, L. Tora, Y. Agid, A. Brice, J. Mandel (1995)
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxiasNature, 378
-
M. Hutton, C. Lendon, P. Rizzu, M. Baker, S. Froelich, H. Houlden, S. Pickering-Brown, S. Chakraverty, A. Isaacs, A. Grover, J. Hackett, J. Adamson, S. Lincoln, D. Dickson, P. Davies, R. Petersen, M. Stevens, E. Graaff, E. Wauters, J. Baren, M. Hillebrand, M. Joosse, J. Kwon, P. Nowotny, Li Che, J. Norton, J. Morris, L. Reed, J. Trojanowski, H. Basun, L. Lannfelt, M. Neystat, S. Fahn, F. Dark, T. Tannenberg, P. Dodd, N. Hayward, J. Kwok, P. Schofield, A. Andreadis, J. Snowden, D. Craufurd, D. Neary, F. Owen, B. Oostra, J. Hardy, A. Goate, J. Swieten, D. Mann, T. Lynch, P. Heutink (1998)
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17Nature, 393
-
D. Knopman, A. Mastri, William II, J. Sung, T. Rustan (1990)
Dementia lacking distinctive histologie featuresNeurology, 40
-
J. Brook, M. McCurrach, H. Harley, A. Buckler, D. Church, H. Aburatani, K. Hunter, V. Stanton, J. Thirion, T. Hudson, R. Sohn, B. Zemelman, R. Snell, S. Rundle, S. Crow, J. Davies, P. Shelbourne, J. Buxton, C. Jones, V. Juvonen, Keith Johnson, P. Harper, D. Shaw, D. Housman (1992)
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family memberCell, 68
-
C. Jodice, E. Mantuano, L. Veneziano, F. Trettel, G. Sabbadini, L. Calandriello, A. Francia, M. Spadaro, F. Pierelli, F. Salvi, R. Ophoff, R. Frants, M. Frontali (1997)
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.Human molecular genetics, 6 11
-
K. Taylor, N. Hornigold, D. Conway, D. Williams, Z. Ulinowski, M. Agochiya, P. Fattorini, P. Jong, P. Little, J. Wolfe (1996)
Mapping the human Y chromosome by fingerprinting cosmid clones.Genome research, 6 4
-
J. Hardy, K. Gwinn‐Hardy (1998)
Genetic classification of primary neurodegenerative disease.Science, 282 5391
-
G. Sirugo, A. Deinard, J. Kidd, K. Kidd (1997)
Survey of maximum CTG/CAG repeat lengths in humans and non-human primates: total genome scan in populations using the Repeat Expansion Detection method.Human molecular genetics, 6 3
-
M. MacDonald, C. Ambrose, M. Duyao, R. Myers, Carol Lin, L. Srinidhi, G. Barnes, Sherryl Taylor, M. James, Nicolet Groot, Heather MacFarlane, B. Jenkins, M. Anderson, N. Wexler, J. Gusella, G. Bates, S. Baxendale, H. Hummerich, S. Kirby, M. North, S. Youngman, R. Mott, G. Zehetner, Z. Sedlacek, A. Poustka, A. Frischauf, H. Lehrach, A. Buckler, D. Church, L. Doucette-Stamm, M. O’Donovan, Laura Riba-Ramírez, Manish Shah, V. Stanton, S. Strobel, K. Draths, Jennifer Wales, P. Dervan, D. Housman, M. Altherr, R. Shiang, L. Thompson, T. Fielder, J. Wasmuth, D. Tagle, J. Valdes, Lon Elmer, M. Allard, L. Castilla, M. Swaroop, K. Blanchard, F. Collins, R. Snell, T. Holloway, Kathleen Gillespie, N. Datson, D. Shaw, P. Harper (1993)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell, 72
- Publisher
- Karger
- Copyright
- © 1999 S. Karger AG, Basel
- ISSN
- 1420-8008
- eISSN
- 1421-9824
- DOI
- 10.1159/000051222
- Publisher site
- See Article on Publisher Site
Abstract
We have previously localized a locus causing familial nonspecific dementia to the centromeric region of chromosome 3 in a pedigree from the Jutland area of Denmark. This pedigree shows anticipation. Here we present further analysis of these anticipation data which are suggestive of trinucleotide repeat expansion involvement. We also outline our strategies to clone the mutant gene via its putative associated trinucleotide repeat sequence.
Journal
Dementia and Geriatric Cognitive Disorders – Karger
Published: Jul 1, 1999
Keywords: Trinucleotide repeat; Frontal lobe dementia; Familial nonspecific dementia; Anticipation