{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:09:47Z","timestamp":1792454987711,"version":"4.5.0"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"16","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,8,15]]},"DOI":"10.1093\/hmg\/ddp242","type":"journal-article","created":{"date-parts":[[2009,5,23]],"date-time":"2009-05-23T20:13:28Z","timestamp":1243109608000},"page":"3039-3047","source":"Crossref","is-referenced-by-count":323,"title":["Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset"],"prefix":"10.1093","volume":"18","author":[{"given":"Meera","family":"Swami","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey E.","family":"Hendricks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Gillis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Massood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayalakshmi","family":"Mysore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa C.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,5,23]]},"reference":[{"key":"key\n\t\t\t\t20170522151447_DDP242C1","first-page":"957","article-title":"Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders","volume":"354","author":"Harper","year":"1999","journal-title":"Philos. Trans. R. Soc. Lond. B, Biol. Sci."},{"key":"key\n\t\t\t\t20170522151447_DDP242C2","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes","volume":"72","author":"Huntington's disease collaborative research group","year":"1993","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170522151447_DDP242C3","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1097\/00005072-198511000-00003","article-title":"Neuropathological classification of Huntington's disease","volume":"44","author":"Vonsattel","year":"1985","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C4","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/ng0893-387","article-title":"Trinucleotide repeat length instability and age of onset in Huntington's disease","volume":"4","author":"Duyao","year":"1993","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C5","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/ng0893-398","article-title":"The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease","volume":"4","author":"Andrew","year":"1993","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C6","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng0893-393","article-title":"Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease","volume":"4","author":"Snell","year":"1993","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C7","doi-asserted-by":"crossref","first-page":"1547","DOI":"10.1093\/hmg\/2.10.1547","article-title":"Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15","volume":"2","author":"Stine","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C8","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1101\/SQB.1996.061.01.062","article-title":"Huntington's disease","volume":"61","author":"Gusella","year":"1996","journal-title":"Cold Spring Harb. Symp. Quant. Biol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C9","first-page":"301","article-title":"Huntington's disease","volume-title":"Genetic Instabilities and Hereditary Neurological Diseases","author":"Myers","year":"1998"},{"key":"key\n\t\t\t\t20170522151447_DDP242C10","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1086\/378133","article-title":"A genome scan for modifiers of age at onset in Huntington disease: the HD MAPS Study","volume":"73","author":"Li","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C11","doi-asserted-by":"crossref","first-page":"3498","DOI":"10.1073\/pnas.0308679101","article-title":"Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset","volume":"101","author":"Wexler","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151447_DDP242C12","doi-asserted-by":"crossref","first-page":"3872","DOI":"10.1073\/pnas.94.8.3872","article-title":"Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease","volume":"94","author":"Rubinsztein","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151447_DDP242C13","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1212\/WNL.53.6.1330","article-title":"Evidence for the GluR6 gene associated with younger onset age of Huntington's disease","volume":"53","author":"MacDonald","year":"1999","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522151447_DDP242C14","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1073\/pnas.98.4.1811","article-title":"The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis","volume":"98","author":"Holbert","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151447_DDP242C15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0304-3940(02)00231-8","article-title":"Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease","volume":"328","author":"Naze","year":"2002","journal-title":"Neurosci. Lett."},{"key":"key\n\t\t\t\t20170522151447_DDP242C16","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0304-3940(03)00436-1","article-title":"Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India","volume":"345","author":"Chattopadhyay","year":"2003","journal-title":"Neurosci. Lett."},{"key":"key\n\t\t\t\t20170522151447_DDP242C17","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10048-004-0175-2","article-title":"Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16","volume":"5","author":"Djousse","year":"2004","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170522151447_DDP242C18","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s10048-005-0023-z","article-title":"The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease","volume":"7","author":"Metzger","year":"2006","journal-title":"Neurogenetics"},{"key":"key\n\t\t\t\t20170522151447_DDP242C19","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1471-2350-7-71","article-title":"Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study","volume":"7","author":"Li","year":"2006","journal-title":"BMC Med. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C20","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1136\/jmg.2006.045153","article-title":"Replication of twelve association studies for Huntington's disease residual age of onset in large Venezuelan kindreds","volume":"44","author":"Andresen","year":"2007","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C21","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1093\/hmg\/ddn003","article-title":"Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease","volume":"17","author":"Metzger","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C22","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1002\/gepi.20317","article-title":"Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds","volume":"32","author":"Gayan","year":"2008","journal-title":"Genet. Epidemiol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C23","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ng0494-409","article-title":"Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm","volume":"6","author":"Telenius","year":"1994","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C24","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1007\/BF00225192","article-title":"Somatic expansion of the (CAG)n repeat in Huntington disease brains","volume":"95","author":"De Rooij","year":"1995","journal-title":"Hum. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C25","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/hmg\/8.1.115","article-title":"Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse","volume":"8","author":"Wheeler","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C26","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1093\/hmg\/9.17.2539","article-title":"Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?","volume":"9","author":"Kennedy","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C27","doi-asserted-by":"crossref","first-page":"3359","DOI":"10.1093\/hmg\/ddg352","article-title":"Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis","volume":"12","author":"Kennedy","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C28","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/hmg\/ddm054","article-title":"Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain","volume":"16","author":"Shelbourne","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C29","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1073\/pnas.0800048105","article-title":"DNA instability in postmitotic neurons","volume":"105","author":"Gonitel","year":"2008","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170522151447_DDP242C30","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/0896-6273(95)90106-X","article-title":"CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain","volume":"15","author":"Aronin","year":"1995","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20170522151447_DDP242C31","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1093\/hmg\/ddg056","article-title":"Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum","volume":"12","author":"Wheeler","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C32","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.nbd.2008.09.014","article-title":"Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes","volume":"33","author":"Dragileva","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"key\n\t\t\t\t20170522151447_DDP242C33","first-page":"61","article-title":"Analysis of unstable triplet repeats using small-pool polymerase chain reaction","volume":"277","author":"Gomes-Pereira","year":"2004","journal-title":"Methods Mol. Biol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C34","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.dnarep.2007.01.002","article-title":"Inherited CAG.CTG allele length is a major modifier of somatic mutation length variability in Huntington disease","volume":"6","author":"Veitch","year":"2007","journal-title":"DNA Repair"},{"key":"key\n\t\t\t\t20170522151447_DDP242C35","doi-asserted-by":"crossref","first-page":"1857","DOI":"10.1126\/science.1139517","article-title":"CREB-binding protein modulates repeat instability in a Drosophila model for polyQ disease","volume":"315","author":"Jung","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522151447_DDP242C36","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1093\/hmg\/9.3.439","article-title":"Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability","volume":"9","author":"Fortune","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C37","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1093\/hmg\/ddg300","article-title":"Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1","volume":"12","author":"Watase","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C38","doi-asserted-by":"crossref","first-page":"e235","DOI":"10.1371\/journal.pcbi.0030235","article-title":"A universal mechanism ties genotype to phenotype in trinucleotide diseases","volume":"3","author":"Kaplan","year":"2007","journal-title":"PLoS Comput. Biol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C39","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1471-2350-10-11","article-title":"DNA instability in replicating Huntington's disease lymphoblasts","volume":"10","author":"Cannella","year":"2009","journal-title":"BMC Med. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C40","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1111\/j.1468-1331.2007.01975.x","article-title":"Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene","volume":"14","author":"Verny","year":"2007","journal-title":"Eur. J. Neurol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C41","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1136\/jnnp.2007.128728","article-title":"Detection of Huntington's disease decades before diagnosis: the Predict-HD study","volume":"79","author":"Paulsen","year":"2008","journal-title":"J. Neurol. Neurosurg. Psychiatr."},{"key":"key\n\t\t\t\t20170522151447_DDP242C42","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1093\/brain\/awn025","article-title":"Cerebral cortex and the clinical expression of Huntington's disease: complexity and heterogeneity","volume":"131","author":"Rosas","year":"2008","journal-title":"Brain"},{"key":"key\n\t\t\t\t20170522151447_DDP242C43","doi-asserted-by":"crossref","first-page":"2674","DOI":"10.1212\/WNL.43.12.2674","article-title":"Somatic instability of CTG repeat in myotonic dystrophy","volume":"43","author":"Ashizawa","year":"1993","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170522151447_DDP242C44","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/nsmb965","article-title":"(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition","volume":"12","author":"Owen","year":"2005","journal-title":"Nat. Struct. Mol. Biol."},{"key":"key\n\t\t\t\t20170522151447_DDP242C45","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1038\/nature05778","article-title":"OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells","volume":"447","author":"Kovtun","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522151447_DDP242C46","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/70598","article-title":"Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice","volume":"23","author":"Manley","year":"1999","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522151447_DDP242C47","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1006\/mcpr.1993.1034","article-title":"A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes","volume":"7","author":"Warner","year":"1993","journal-title":"Mol. Cell Probes"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/18\/16\/3039\/17247251\/ddp242.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T00:33:34Z","timestamp":1503448414000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddp242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,23]]},"references-count":47,"journal-issue":{"issue":"16","published-online":{"date-parts":[[2009,5,23]]},"published-print":{"date-parts":[[2009,8,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddp242","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2009,5,23]]}}}