{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:53:32Z","timestamp":1787828012884,"version":"build-2784847793"},"reference-count":30,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2012,2,16]],"date-time":"2012-02-16T00:00:00Z","timestamp":1329350400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0029522","type":"journal-article","created":{"date-parts":[[2012,2,16]],"date-time":"2012-02-16T22:27:05Z","timestamp":1329431225000},"page":"e29522","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":77,"title":["Characterization of a Large Group of Individuals with Huntington Disease and Their Relatives Enrolled in the COHORT Study"],"prefix":"10.1371","volume":"7","clinical-trial-number":[{"clinical-trial-number":"nct00313495","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"E. Ray","family":"Dorsey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Huntington Study Group COHORT Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2012,2,16]]},"reference":[{"issue":"6","key":"ref1","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","year":"1993","journal-title":"Cell"},{"key":"ref2","first-page":"16","article-title":"Phenotypic characterization of individuals with 30\u201340 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201339 repeats.","volume":"59","author":"DC Rubinsztein","year":"1996","journal-title":"Am J Hum Genet"},{"key":"ref3","first-page":"1243","article-title":"Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics\/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.","volume":"62","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1136\/jmg.2006.045120","article-title":"Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.","volume":"44","author":"OW Quarrell","year":"2007","journal-title":"J Med Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1093\/hmg\/6.5.775","article-title":"Reduced penetrance of the Huntington's disease mutation.","volume":"6","author":"SM McNeil","year":"1997","journal-title":"Hum Mol Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1002\/ajmg.a.32901","article-title":"Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27\u201335 CAG).","volume":"149A","author":"AE Hendricks","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref7","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":"M Duyao","year":"1993","journal-title":"Nat Genet"},{"key":"ref8","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 the length of the trinucleotide repeat in IT-15.","volume":"2","author":"OC Stine","year":"1993","journal-title":"Hum Mol Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/ajmg.b.30992","article-title":"CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.","volume":"153B","author":"DR Langbehn","year":"2010","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1016\/j.jocn.2009.11.011","article-title":"Huntington disease in a nonagenarian mistakenly diagnosed as normal pressure hydrocephalus.","volume":"17","author":"J Dennhardt","year":"2010","journal-title":"J Clin Neurosci"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/BF00194305","article-title":"The epidemiology of Huntington's disease.","volume":"89","author":"PS Harper","year":"1992","journal-title":"Hum Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"187","DOI":"10.5694\/j.1326-5377.2000.tb125598.x","article-title":"Prevalence of Huntington disease in New South Wales in 1996.","volume":"173","author":"EA McCusker","year":"2000","journal-title":"Med J Aust"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/mds.870110204","article-title":"Unified Huntington's disease rating scale: Reliability and consistency.","volume":"11","year":"1996","journal-title":"Mov Disord"},{"key":"ref14","first-page":"189","article-title":"Mini-Mental State: A practical method for grading the cognitive state of patients for the clinician.","volume":"12","author":"MF Folstein","year":"1975","journal-title":"J Psychiatric Res"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1176\/appi.ajp.2009.09070973","article-title":"Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder.","volume":"167","author":"RH Perlis","year":"2010","journal-title":"Am J Psychiatry"},{"key":"ref16","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":"JS Paulsen","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/WNL.0b013e3181eccfa2","article-title":"Mild cognitive impairment in prediagnosed Huntington disease.","volume":"75","author":"K Duff","year":"2010","journal-title":"Neurology"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1002\/ajpa.1330670304","article-title":"An anthropometric assessment of Huntington's disease patients and families.","volume":"67","author":"LA Farrer","year":"1985","journal-title":"Am J Phys Anthropol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"3371","DOI":"10.1097\/00001756-200110290-00044","article-title":"Lipoic acid improves survival in transgenic mouse models of Huntington's disease.","volume":"12","author":"OA Andreassen","year":"2001","journal-title":"Neuroreport"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1212\/WNL.0b013e3181b04aa2","article-title":"Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants.","volume":"73","author":"K Marder","year":"2009","journal-title":"Neurology"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1136\/jnnp.47.12.1283","article-title":"Increased rate of suicide among patients with Huntington's disease.","volume":"47","author":"M Schoenfeld","year":"1984","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.1320240211","article-title":"Suicide and attempted suicide in Huntington disease: implications for preclinical testing of persons at risk.","volume":"24","author":"LA Farrer","year":"1986","journal-title":"Am J Med Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1136\/jmg.29.12.911","article-title":"Causes of death in patients with Huntington's disease and in unaffected first degree relatives.","volume":"29","author":"SA Sorensen","year":"1992","journal-title":"J Med Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1176\/appi.ajp.162.4.725","article-title":"Critical periods of suicide risk in Huntington's disease.","volume":"162","author":"JS Paulsen","year":"2005","journal-title":"Am J Psychiatry"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1136\/jmg.30.4.293","article-title":"Suicide risk in Huntington's disease.","volume":"30","author":"LF Di Maio","year":"1993","journal-title":"J Med Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1111\/j.1399-0004.2010.01388.x","article-title":"Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.","volume":"78","author":"J Sequeiros","year":"2010","journal-title":"Clin Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.2007.050930","article-title":"Factors associated with HD CAG repeat instability in Huntington disease.","volume":"44","author":"VC Wheeler","year":"2007","journal-title":"J Med Genet"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1186\/1471-2202-7-62","article-title":"Genetic analysis of the GRIK2 modifier effect in Huntington's disease.","volume":"7","author":"W Zeng","year":"2006","journal-title":"BMC Neurosci"},{"key":"ref29","article-title":"About EHDN Registry."},{"key":"ref30","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/S1474-4422(09)70170-X","article-title":"Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data.","volume":"8","author":"SJ Tabrizi","year":"2009","journal-title":"Lancet Neurol"}],"updated-by":[{"DOI":"10.1371\/annotation\/25881bc7-922d-4472-9efd-f0896b1a3499","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2012,8,30]],"date-time":"2012-08-30T00:00:00Z","timestamp":1346284800000}}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0029522","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T15:04:02Z","timestamp":1593702242000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0029522"}},"subtitle":[],"editor":[{"given":"Alfred","family":"Lewin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2012,2,16]]},"references-count":30,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,2,16]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0029522","relation":{"correction":[{"id-type":"doi","id":"10.1371\/annotation\/25881bc7-922d-4472-9efd-f0896b1a3499","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,16]]}}}