{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:22:55Z","timestamp":1792264975553,"version":"4.4.0"},"reference-count":275,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T00:00:00Z","timestamp":1612828800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Huntington's Disease"],"published-print":{"date-parts":[[2021,2,9]]},"abstract":"<jats:p>Huntington\u2019s disease (HD) (OMIM 143100) is caused by an expanded CAG repeat tract in the HTT gene. The inherited CAG length is known to expand further in somatic and germline cells in HD subjects. Age at onset of the disease is inversely correlated with the inherited CAG length, but is further modulated by a series of genetic modifiers which are most likely to act on the CAG repeat in HTT that permit it to further expand. Longer repeats are more prone to expansions, and this expansion is age dependent and tissue-specific. Given that the inherited tract expands through life and most subjects develop disease in mid-life, this implies that in cells that degenerate, the CAG length is likely to be longer than the inherited length. These findings suggest two thresholds\u2014 the inherited CAG length which permits further expansion, and the intracellular pathogenic threshold, above which cells become dysfunctional and die. This two-step mechanism has been previously proposed and modelled mathematically to give an intracellular pathogenic threshold at a tract length of 115 CAG (95% confidence intervals 70\u2013 165 CAG). Empirically, the intracellular pathogenic threshold is difficult to determine. Clues from studies of people and models of HD, and from other diseases caused by expanded repeat tracts, place this threshold between 60\u2013 100 CAG, most likely towards the upper part of that range. We assess this evidence and discuss how the intracellular pathogenic threshold in manifest disease might be better determined. Knowing the cellular pathogenic threshold would be informative for both understanding the mechanism in HD and deploying treatments.<\/jats:p>","DOI":"10.3233\/jhd-200445","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T21:46:44Z","timestamp":1612907204000},"page":"175-202","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":66,"title":["What is the Pathogenic CAG Expansion Length in Huntington\u2019s Disease?"],"prefix":"10.1177","volume":"10","author":[{"given":"Jasmine","family":"Donaldson","sequence":"first","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Powell","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Rickards","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Holmans","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Jones","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,2,9]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2017.115"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.REV119.007678"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.5"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.29.051605.113042"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx081"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.09.020"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.06.036"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.007"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2018101112"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.10.038"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-01510-z"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1126\/science.aax3338"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25393"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-27985-y"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)92002-B"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-387"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.07.003"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30161-8"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-200427"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx286"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy375"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.05.012"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm054"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0800048105"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-409"},{"key":"ref027","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225192"},{"key":"ref028","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg352"},{"key":"ref029","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp242"},{"key":"ref030","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0047085"},{"key":"ref031","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2015.11.008"},{"key":"ref032","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-200426"},{"key":"ref033","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.031930"},{"key":"ref034","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.0030235"},{"key":"ref035","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2019.2368"},{"key":"ref036","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.6.883"},{"key":"ref037","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70238-8"},{"key":"ref038","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70088-7"},{"key":"ref039","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30143-5"},{"key":"ref040","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2015.08.002"},{"key":"ref041","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy122"},{"key":"ref042","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl125"},{"key":"ref043","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001242"},{"key":"ref044","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2013.08.010"},{"key":"ref045","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2014.24"},{"key":"ref046","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.12.035"},{"key":"ref047","volume-title":"Methods in Molecular Biology: Huntington\u2019s Disease","author":"Bates GP","year":"2018"},{"key":"ref048","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu174"},{"key":"ref049","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00202-1"},{"key":"ref050","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102200"},{"key":"ref051","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-6147(00)01884-8"},{"key":"ref052","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81369-0"},{"key":"ref053","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-197"},{"key":"ref054","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80764-3"},{"key":"ref055","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00615-3"},{"key":"ref056","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2003.11.014"},{"key":"ref057","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.21-23-09112.2001"},{"key":"ref058","doi-asserted-by":"publisher","DOI":"10.1038\/2510"},{"key":"ref059","doi-asserted-by":"publisher","DOI":"10.1038\/ng1297-404"},{"key":"ref060","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.115"},{"key":"ref061","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2015.05.010"},{"key":"ref062","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw040"},{"key":"ref063","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg075"},{"key":"ref064","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4547(19991115)58:4<515::AID-JNR5>3.0.CO;2-F"},{"key":"ref065","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-18-08266.2002"},{"key":"ref066","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00308.2004"},{"key":"ref067","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.763"},{"key":"ref068","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.1153"},{"key":"ref069","doi-asserted-by":"publisher","DOI":"10.1016\/j.neures.2007.01.002"},{"key":"ref070","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.21-21-08473.2001"},{"key":"ref071","doi-asserted-by":"publisher","DOI":"10.1038\/78054"},{"key":"ref072","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.17.2539"},{"key":"ref073","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.3.397"},{"key":"ref074","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1305-11.2012"},{"key":"ref075","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2006.10.015"},{"key":"ref076","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds397"},{"key":"ref077","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0094562"},{"key":"ref078","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0857-08.2008"},{"key":"ref079","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.05.007"},{"key":"ref080","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds037"},{"key":"ref081","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2012.10.039"},{"key":"ref082","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0068584"},{"key":"ref083","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0071633"},{"key":"ref084","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f683"},{"key":"ref085","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq501"},{"key":"ref086","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0575-8"},{"key":"ref087","doi-asserted-by":"publisher","DOI":"10.1002\/mc.20488"},{"key":"ref088","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.01.004"},{"key":"ref089","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.10.009"},{"key":"ref090","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.11.015"},{"key":"ref091","doi-asserted-by":"publisher","DOI":"10.1152\/jn.00762.2011"},{"key":"ref092","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-55202-x"},{"key":"ref093","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06281-3"},{"key":"ref094","doi-asserted-by":"publisher","DOI":"10.1016\/B978-044482383-0\/50093-5"},{"key":"ref095","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi340"},{"key":"ref096","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa066"},{"key":"ref097","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2019.04.021"},{"key":"ref098","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2011.05.010"},{"key":"ref099","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2008.01.020"},{"key":"ref100","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2011.09.011"},{"key":"ref101","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaq1818"},{"key":"ref102","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.2.137"},{"key":"ref103","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-physiol-030212-183715"},{"key":"ref104","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2011.10.002"},{"key":"ref105","doi-asserted-by":"publisher","DOI":"10.1093\/jamiaopen\/ooy060"},{"key":"ref106","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2019.12.010"},{"key":"ref107","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3461"},{"key":"ref108","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2579-z"},{"key":"ref109","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(16)30350-7"},{"key":"ref110","doi-asserted-by":"crossref","unstructured":"TsujiS. Dentatorubral-pallidoluysian atrophy. In: Handbook of Clinical Neurology. 2012. p. 587-94.","DOI":"10.1016\/B978-0-444-51892-7.00041-3"},{"key":"ref111","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21948"},{"key":"ref112","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3412"},{"key":"ref113","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24656"},{"key":"ref114","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-019-00768-7"},{"key":"ref115","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.1.86"},{"key":"ref116","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12808"},{"key":"ref117","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-317253"},{"key":"ref118","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl080"},{"key":"ref119","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-009-0630-0"},{"key":"ref120","first-page":"5","volume":"9","author":"Giunti P","year":"2015","journal-title":"The multifaceted aspects of a single mutation. Front Cell Neurosci"},{"key":"ref121","doi-asserted-by":"crossref","unstructured":"StoyasCA, La SpadaAR. The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology. In: Handbook of Clinical Neurology. 2018. p. 143-70.","DOI":"10.1016\/B978-0-444-63233-3.00011-7"},{"key":"ref122","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.5.1442"},{"key":"ref123","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-221"},{"key":"ref124","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200788"},{"key":"ref125","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20075"},{"key":"ref126","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003648"},{"key":"ref127","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2018.00200"},{"key":"ref128","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.12.2411"},{"key":"ref129","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-344"},{"key":"ref130","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390412"},{"key":"ref131","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400211"},{"issue":"4","key":"ref132","first-page":"993","volume":"60","author":"Maciel P","year":"1997","journal-title":"Am J Hum Genet"},{"key":"ref133","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410414"},{"key":"ref134","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M"},{"issue":"7","key":"ref135","first-page":"546","volume":"36","author":"Matsuyama Z","year":"1999","journal-title":"J Med Genet"},{"key":"ref136","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.5.789"},{"key":"ref137","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31013"},{"key":"ref138","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1000-2"},{"key":"ref139","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.039"},{"key":"ref140","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050464"},{"key":"ref141","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0017951"},{"key":"ref142","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-269"},{"key":"ref143","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-277"},{"key":"ref144","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-285"},{"key":"ref145","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.709"},{"issue":"2","key":"ref146","first-page":"112","volume":"36","author":"Mizushima K","year":"1999","journal-title":"J Med Genet"},{"key":"ref147","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.21.2437"},{"key":"ref148","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20074"},{"key":"ref149","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269323.21969.db"},{"key":"ref150","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.10.1510"},{"key":"ref151","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-221"},{"issue":"4","key":"ref152","first-page":"809","volume":"57","author":"Cancel G","year":"1995","journal-title":"Am J Hum Genet"},{"key":"ref153","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00249-2"},{"key":"ref154","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022441101801"},{"issue":"4","key":"ref155","first-page":"406","volume":"26","author":"Zhang S","year":"2009","journal-title":"Chinese J Med Genet"},{"key":"ref156","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-65"},{"key":"ref157","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.165"},{"key":"ref158","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.525"},{"key":"ref159","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.57.10.1513"},{"key":"ref160","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0387-4"},{"key":"ref161","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-015-9488-8"},{"key":"ref162","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.1902"},{"key":"ref163","doi-asserted-by":"publisher","DOI":"10.1038\/70493"},{"key":"ref164","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<117::AID-ANA19>3.0.CO;2-G"},{"key":"ref165","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww269"},{"key":"ref166","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201954"},{"key":"ref167","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-12-73"},{"key":"ref168","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-9"},{"key":"ref169","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.663"},{"issue":"6","key":"ref170","first-page":"1212","volume":"58","author":"Takano H","year":"1996","journal-title":"Am J Hum Genet"},{"key":"ref171","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02625.x"},{"key":"ref172","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000400"},{"key":"ref173","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(01)00596-2"},{"key":"ref174","doi-asserted-by":"publisher","DOI":"10.1038\/352077a0"},{"key":"ref175","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02367.x"},{"key":"ref176","doi-asserted-by":"publisher","DOI":"10.1086\/302578"},{"key":"ref177","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.07.015"},{"key":"ref178","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000507"},{"key":"ref179","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa139"},{"key":"ref180","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2013.01.001"},{"key":"ref181","first-page":"508","volume":"8","author":"Wall\u00f8e S","year":"2014","journal-title":"Front Hum Neurosci"},{"key":"ref182","doi-asserted-by":"crossref","unstructured":"NallsM, BlauwendraatC, VallergaC, HeilbronK, Bandres-CigaS, ChangD, et al. Expanding Parkinson\u2019s disease genetics: novel risk loci, genomic context, causal insights and heritable risk. bioRxiv. 2018;388165.","DOI":"10.1101\/388165"},{"key":"ref183","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.02.013"},{"key":"ref184","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002016"},{"key":"ref185","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23984"},{"key":"ref186","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-008-0016-1"},{"key":"ref187","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.439"},{"key":"ref188","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90138-8"},{"key":"ref189","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0909740107"},{"key":"ref190","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky099"},{"key":"ref191","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.10.048"},{"key":"ref192","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003051"},{"key":"ref193","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1075"},{"key":"ref194","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.17.1927"},{"key":"ref195","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80839-9"},{"key":"ref196","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.1.99"},{"key":"ref197","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.01.014"},{"key":"ref198","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn403"},{"key":"ref199","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M511677200"},{"key":"ref200","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl182"},{"key":"ref201","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.779"},{"key":"ref202","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90273-2"},{"key":"ref203","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.17-19-07385.1997"},{"key":"ref204","doi-asserted-by":"publisher","DOI":"10.1038\/72101"},{"key":"ref205","doi-asserted-by":"publisher","DOI":"10.1017\/S1740925X08000185"},{"key":"ref206","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00733-X"},{"key":"ref207","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg300"},{"key":"ref208","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002920"},{"key":"ref209","doi-asserted-by":"publisher","DOI":"10.1038\/79162"},{"key":"ref210","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0660-09.2009"},{"key":"ref211","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005182"},{"key":"ref212","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2005.09.020"},{"key":"ref213","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2019.104559"},{"key":"ref214","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds427"},{"key":"ref215","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2008.31"},{"key":"ref216","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp292"},{"key":"ref217","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4540-06.2007"},{"key":"ref218","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2734-04.2004"},{"key":"ref219","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp381"},{"key":"ref220","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-196"},{"key":"ref221","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2008.03.011"},{"key":"ref222","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu532"},{"key":"ref223","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3909-08.2008"},{"key":"ref224","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2014.09.020"},{"key":"ref225","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.05.021"},{"key":"ref226","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-013-0255-9"},{"key":"ref227","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.08.002"},{"key":"ref228","doi-asserted-by":"crossref","unstructured":"HaasE, IncebacakR, HentrichT, MaringerY, SchmidtT, ZimmermannF, et al. A novel ataxin-3 knock-in mouse model mimics the human SCA3 disease phenotype including neuropathological, behavioral, and transcriptional abnormalities. bioRxiv. 2020;2020.02.28.968024.","DOI":"10.1101\/2020.02.28.968024"},{"key":"ref229","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0891-15.2015"},{"issue":"2","key":"ref230","first-page":"261","volume":"34","author":"Saegusa H","year":"2007","journal-title":"1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells. Mol Cell Neurosci"},{"key":"ref231","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0804350105"},{"key":"ref232","doi-asserted-by":"publisher","DOI":"10.1523\/ENEURO.0094-15.2015"},{"key":"ref233","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1212786109"},{"key":"ref234","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuint.2009.11.003"},{"key":"ref235","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2010.05.011"},{"key":"ref236","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.17.2491"},{"key":"ref237","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4407-03.2004"},{"key":"ref238","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00422-6"},{"key":"ref239","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.22-12-04897.2002"},{"key":"ref240","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg006"},{"key":"ref241","doi-asserted-by":"publisher","DOI":"10.1038\/nn1750"},{"key":"ref242","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4000-11.2011"},{"key":"ref243","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr474"},{"key":"ref244","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1679"},{"key":"ref245","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)01190-X"},{"key":"ref246","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5622-12.2013"},{"key":"ref247","doi-asserted-by":"publisher","DOI":"10.1038\/nn2011"},{"key":"ref248","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2011.07304.x"},{"key":"ref249","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-191"},{"key":"ref250","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.6.959"},{"key":"ref251","doi-asserted-by":"publisher","DOI":"10.1210\/me.2006-0021"},{"key":"ref252","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.18.2103"},{"key":"ref253","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00834-6"},{"key":"ref254","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(04)00082-0"},{"key":"ref255","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0808-04.2004"},{"key":"ref256","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28773."},{"key":"ref257","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2006.050619"},{"key":"ref258","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.10.1039"},{"key":"ref259","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1018748108"},{"key":"ref260","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199805000-00001"},{"key":"ref261","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199929146.003.0009"},{"key":"ref262","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-2012-120018"},{"key":"ref263","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25709"},{"key":"ref264","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23580"},{"key":"ref265","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-7825-0_22"},{"key":"ref266","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA120.012983"},{"key":"ref267","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3370"},{"key":"ref268","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-019-1367-0"},{"key":"ref269","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2786"},{"key":"ref270","doi-asserted-by":"crossref","unstructured":"LevineMS, WangEA, ChenJY, CepedaC, AndreVM. Altered neuronal circuitry. In: Huntington\u2019s disease. 2014. p. 218-40.","DOI":"10.1093\/med\/9780199929146.003.0010"},{"key":"ref271","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3514"},{"key":"ref272","doi-asserted-by":"publisher","DOI":"10.1038\/nature08185"},{"key":"ref273","doi-asserted-by":"publisher","DOI":"10.1186\/s12874-018-0592-9"},{"key":"ref274","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-200433"},{"key":"ref275","doi-asserted-by":"publisher","DOI":"10.3233\/JHD-200421"}],"container-title":["Journal of Huntington's Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JHD-200445","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JHD-200445","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JHD-200445","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:55:58Z","timestamp":1777452958000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JHD-200445"}},"subtitle":[],"editor":[{"given":"Lesley","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Christopher E.","family":"Pearson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]},{"given":"Vanessa","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2021,2,9]]},"references-count":275,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,2,9]]}},"alternative-id":["10.3233\/JHD-200445"],"URL":"https:\/\/doi.org\/10.3233\/jhd-200445","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.739570334.793593614","asserted-by":"object"}]},"ISSN":["1879-6397","1879-6400"],"issn-type":[{"value":"1879-6397","type":"print"},{"value":"1879-6400","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,9]]}}}