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Volumn 11, Issue 1, 2012, Pages 54-65

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study

(35)  Gijselinck, Ilse a,b   Van Langenhove, Tim a,b,c   van der Zee, Julie a,b   Sleegers, Kristel a,b   Philtjens, Stéphanie a,b   Kleinberger, Gernot a,b   Janssens, Jonathan a,b   Bettens, Karolien a,b   Van Cauwenberghe, Caroline a,b   Pereson, Sandra a,b   Engelborghs, Sebastiaan b,d   Sieben, Anne a,b,e   De Jonghe, Peter a,b,c   Vandenberghe, Rik f   Santens, Patrick e   De Bleecker, Jan e   Maes, Githa a,b   Bäumer, Veerle a,b   Dillen, Lubina a,b   Joris, Geert a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; BELGIUM; BRAIN TISSUE; CAG REPEAT; CHROMOSOME 9P; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; NEUROPATHOLOGY; ONSET AGE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 83555166183     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(11)70261-7     Document Type: Article
Times cited : (540)

References (44)
  • 1
    • 0035978743 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis
    • Rowland LP, Shneider NA Amyotrophic lateral sclerosis. N Engl J Med 2001, 344:1688-1700.
    • (2001) N Engl J Med , vol.344 , pp. 1688-1700
    • Rowland, L.P.1    Shneider, N.A.2
  • 2
    • 0041320789 scopus 로고    scopus 로고
    • Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study
    • Donker Kaat L
    • Rosso SM, Baks T, et al. Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain 2003, 126:2016-2022. Donker Kaat L.
    • (2003) Brain , vol.126 , pp. 2016-2022
    • Rosso, S.M.1    Baks, T.2
  • 3
    • 67650741437 scopus 로고    scopus 로고
    • Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders
    • Lillo P, Hodges JR Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J Clin Neurosci 2009, 16:1131-1135.
    • (2009) J Clin Neurosci , vol.16 , pp. 1131-1135
    • Lillo, P.1    Hodges, J.R.2
  • 6
    • 0031672540 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria
    • Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology 1998, 51:1546-1554.
    • (1998) Neurology , vol.51 , pp. 1546-1554
    • Neary, D.1    Snowden, J.S.2    Gustafson, L.3
  • 7
    • 33750716074 scopus 로고    scopus 로고
    • TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Arai T, Hasegawa M, Akiyama H, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006, 351:602-611.
    • (2006) Biochem Biophys Res Commun , vol.351 , pp. 602-611
    • Arai, T.1    Hasegawa, M.2    Akiyama, H.3
  • 8
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Neumann M, Sampathu DM, Kwong LK, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
    • (2006) Science , vol.314 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3
  • 9
    • 70350572209 scopus 로고    scopus 로고
    • TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea
    • Kovacs GG, Murrell JR, Horvath S, et al. TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea. Mov Disord 2009, 24:1843-1847.
    • (2009) Mov Disord , vol.24 , pp. 1843-1847
    • Kovacs, G.G.1    Murrell, J.R.2    Horvath, S.3
  • 10
    • 76349115779 scopus 로고    scopus 로고
    • Genetic contribution of FUS to frontotemporal lobar degeneration
    • Van Langenhove T, van der Zee J, Sleegers K, et al. Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology 2010, 74:366-371.
    • (2010) Neurology , vol.74 , pp. 366-371
    • Van Langenhove, T.1    van der Zee, J.2    Sleegers, K.3
  • 11
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • the ITALSGEN Consortium
    • Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68:857-864. the ITALSGEN Consortium.
    • (2010) Neuron , vol.68 , pp. 857-864
    • Johnson, J.O.1    Mandrioli, J.2    Benatar, M.3
  • 12
    • 78751478222 scopus 로고    scopus 로고
    • Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family
    • Boxer AL, Mackenzie IR, Boeve BF, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry 2010, 82:196-203.
    • (2010) J Neurol Neurosurg Psychiatry , vol.82 , pp. 196-203
    • Boxer, A.L.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 13
    • 77952115084 scopus 로고    scopus 로고
    • Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Gijselinck I, Engelborghs S, Maes G, et al. Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol 2010, 67:606-616.
    • (2010) Arch Neurol , vol.67 , pp. 606-616
    • Gijselinck, I.1    Engelborghs, S.2    Maes, G.3
  • 14
    • 67049135828 scopus 로고    scopus 로고
    • Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease
    • the French Research Network on FTD/FTD-MND
    • Le Ber I, Camuzat A, Berger E, et al. Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology 2009, 72:1669-1676. the French Research Network on FTD/FTD-MND.
    • (2009) Neurology , vol.72 , pp. 1669-1676
    • Le Ber, I.1    Camuzat, A.2    Berger, E.3
  • 15
    • 54749127016 scopus 로고    scopus 로고
    • Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9
    • Luty AA, Kwok JB, Thompson EM, et al. Pedigree with frontotemporal lobar degeneration-motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol 2008, 8:32.
    • (2008) BMC Neurol , vol.8 , pp. 32
    • Luty, A.A.1    Kwok, J.B.2    Thompson, E.M.3
  • 16
    • 33645062075 scopus 로고    scopus 로고
    • A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    • Morita M, Al-Chalabi A, Andersen PM, et al. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66:839-844.
    • (2006) Neurology , vol.66 , pp. 839-844
    • Morita, M.1    Al-Chalabi, A.2    Andersen, P.M.3
  • 17
    • 33846945446 scopus 로고    scopus 로고
    • Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p
    • Valdmanis PN, Dupre N, Bouchard JP, et al. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol 2007, 64:240-245.
    • (2007) Arch Neurol , vol.64 , pp. 240-245
    • Valdmanis, P.N.1    Dupre, N.2    Bouchard, J.P.3
  • 18
    • 33645069660 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    • Vance C, Al-Chalabi A, Ruddy D, et al. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Brain 2006, 129:868-876.
    • (2006) Brain , vol.129 , pp. 868-876
    • Vance, C.1    Al-Chalabi, A.2    Ruddy, D.3
  • 19
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
    • Laaksovirta H, Peuralinna T, Schymick JC, et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 2010, 9:978-985.
    • (2010) Lancet Neurol , vol.9 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3
  • 20
    • 77956877621 scopus 로고    scopus 로고
    • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    • Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010, 9:986-994.
    • (2010) Lancet Neurol , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3
  • 21
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es MA, Veldink JH, Saris CG, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 41:1083-1087.
    • (2009) Nat Genet , vol.41 , pp. 1083-1087
    • van Es, M.A.1    Veldink, J.H.2    Saris, C.G.3
  • 22
    • 77649136250 scopus 로고    scopus 로고
    • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
    • Van Deerlin VM, Sleiman PM, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet 2010, 42:234-239.
    • (2010) Nat Genet , vol.42 , pp. 234-239
    • Van Deerlin, V.M.1    Sleiman, P.M.2    Martinez-Lage, M.3
  • 23
    • 79953034868 scopus 로고    scopus 로고
    • Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis
    • Rollinson S, Mead S, Snowden J, et al. Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis. Neurobiol Aging 2011, 32:757-758.
    • (2011) Neurobiol Aging , vol.32 , pp. 757-758
    • Rollinson, S.1    Mead, S.2    Snowden, J.3
  • 24
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • Dejesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 25
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • the The ITALSGEN Consortium
    • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268. the The ITALSGEN Consortium.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 26
    • 79952148055 scopus 로고    scopus 로고
    • TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort
    • van der Zee J, Van Langenhove T, Kleinberger G, et al. TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort. Brain 2011, 134:808-815.
    • (2011) Brain , vol.134 , pp. 808-815
    • van der Zee, J.1    Van Langenhove, T.2    Kleinberger, G.3
  • 27
    • 84858337987 scopus 로고    scopus 로고
    • Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts
    • published online Oct 27.
    • Van Langenhove T, van der Zee J, Engelborghs S, et al. Ataxin-2 polyQ expansions in FTLD-ALS spectrum disorders in Flanders-Belgian cohorts. Neurobiol Aging 2011, published online Oct 27. 10.1016/j.neurobiolaging.2011.09.025.
    • (2011) Neurobiol Aging
    • Van Langenhove, T.1    van der Zee, J.2    Engelborghs, S.3
  • 28
    • 82755174006 scopus 로고    scopus 로고
    • Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis
    • published online April 19.
    • Bogaert E, Goris A, Van DP, et al. Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2010, published online April 19. 10.1016/j.neurobiolaging.2010.03.007.
    • (2010) Neurobiol Aging
    • Bogaert, E.1    Goris, A.2    Van, D.P.3
  • 29
    • 0034574407 scopus 로고    scopus 로고
    • El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
    • the World Federation of Neurology Research Group on Motor Neuron Diseases
    • Brooks BR, Miller RG, Swash M, Munsat TL El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuro Disord 2000, 1:293-299. the World Federation of Neurology Research Group on Motor Neuron Diseases.
    • (2000) Amyotroph Lateral Scler Other Motor Neuro Disord , vol.1 , pp. 293-299
    • Brooks, B.R.1    Miller, R.G.2    Swash, M.3    Munsat, T.L.4
  • 30
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
    • Drmanac R, Sparks AB, Callow MJ, et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010, 327:78-81.
    • (2010) Science , vol.327 , pp. 78-81
    • Drmanac, R.1    Sparks, A.B.2    Callow, M.J.3
  • 31
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • Roach JC, Glusman G, Smit AF, et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 2010, 328:636-639.
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 32
    • 38749141432 scopus 로고    scopus 로고
    • A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
    • Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 2008, 10:43-49.
    • (2008) J Mol Diagn , vol.10 , pp. 43-49
    • Tassone, F.1    Pan, R.2    Amiri, K.3    Taylor, A.K.4    Hagerman, P.J.5
  • 33
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner JP, Barron LH, Goudie D, et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996, 33:1022-1026.
    • (1996) J Med Genet , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3
  • 34
    • 33746910649 scopus 로고    scopus 로고
    • Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
    • Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442:920-924.
    • (2006) Nature , vol.442 , pp. 920-924
    • Cruts, M.1    Gijselinck, I.2    van der Zee, J.3
  • 35
    • 69449108742 scopus 로고    scopus 로고
    • Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
    • van der Zee J, Pirici D, Van Langenhove T, et al. Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology 2009, 73:626-632.
    • (2009) Neurology , vol.73 , pp. 626-632
    • van der Zee, J.1    Pirici, D.2    Van Langenhove, T.3
  • 38
    • 80052580969 scopus 로고    scopus 로고
    • Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    • Deng HX, Chen W, Hong ST, et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011, 477:211-215.
    • (2011) Nature , vol.477 , pp. 211-215
    • Deng, H.X.1    Chen, W.2    Hong, S.T.3
  • 39
    • 77649187519 scopus 로고    scopus 로고
    • Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update
    • Mackenzie IR, Neumann M, Bigio EH, et al. Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update. Acta Neuropathol 2010, 119:1-4.
    • (2010) Acta Neuropathol , vol.119 , pp. 1-4
    • Mackenzie, I.R.1    Neumann, M.2    Bigio, E.H.3
  • 40
    • 79955550445 scopus 로고    scopus 로고
    • A user's guide to the encyclopedia of DNA elements (ENCODE)
    • ENCODE Project Consortium
    • A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biol 2011, 9:e1001046. ENCODE Project Consortium.
    • (2011) PLoS Biol , vol.9
  • 41
    • 77956884760 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens
    • Daoud H, Belzil V, Dion PA, Rouleau GA Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens. Lancet Neurol 2010, 9:945-947.
    • (2010) Lancet Neurol , vol.9 , pp. 945-947
    • Daoud, H.1    Belzil, V.2    Dion, P.A.3    Rouleau, G.A.4
  • 42
    • 79953814616 scopus 로고    scopus 로고
    • Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
    • Pearson JP, Williams NM, Majounie E, et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol 2011, 258:647-655.
    • (2011) J Neurol , vol.258 , pp. 647-655
    • Pearson, J.P.1    Williams, N.M.2    Majounie, E.3
  • 43
    • 77950529265 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration in repeat expansion disorders
    • Todd PK, Paulson HL RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010, 67:291-300.
    • (2010) Ann Neurol , vol.67 , pp. 291-300
    • Todd, P.K.1    Paulson, H.L.2
  • 44
    • 46449113997 scopus 로고    scopus 로고
    • The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
    • Usdin K The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res 2008, 18:1011-1019.
    • (2008) Genome Res , vol.18 , pp. 1011-1019
    • Usdin, K.1


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