{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T08:19:17Z","timestamp":1788337157968,"version":"build-2803163510"},"reference-count":224,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus\u2010ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To review the causes of MAS and to propose a diagnostic algorithm.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus\u2010myoclonus\u2010ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work\u2010up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.13106","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T14:19:50Z","timestamp":1603117190000},"page":"9-24","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["<scp>Myoclonus\u2010Ataxia<\/scp>\n                    Syndromes: A Diagnostic Approach"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3383-8566","authenticated-orcid":false,"given":"Malco","family":"Rossi","sequence":"first","affiliation":[{"name":"Movement Disorders Section Neuroscience Department  Buenos Aires Argentina"},{"name":"Argentine National Scientific and Technological Research Council (CONICET)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sterre","family":"van der Veen","sequence":"additional","affiliation":[{"name":"Pontificia Universidad Cat\u00f3lica Argentina (UCA)  Buenos Aires Argentina"},{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6898-7823","authenticated-orcid":false,"given":"Marcelo","family":"Merello","sequence":"additional","affiliation":[{"name":"Movement Disorders Section Neuroscience Department  Buenos Aires Argentina"},{"name":"Argentine National Scientific and Technological Research Council (CONICET)  Buenos Aires Argentina"},{"name":"Pontificia Universidad Cat\u00f3lica Argentina (UCA)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5783-571X","authenticated-orcid":false,"given":"Marina A.J.","family":"Tijssen","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Groningen, University Medical Center Groningen  Groningen The Netherlands"},{"name":"Expertise Center Movement Disorders Groningen University Medical Center Groningen (UMCG)  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van de Warrenburg","sequence":"additional","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition &amp; Behaviour Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12650"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12635"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27828"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27415"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1002\/mds.27412","article-title":"Progressive myoclonus ataxia: Time for a new definition?","volume":"33","author":"Veen S","year":"2018","journal-title":"Mov Disord"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.9.1754"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-016-2632-8"},{"key":"e_1_2_7_9_1","article-title":"Update on opsoclonus\u2010myoclonus syndrome in adults","author":"Oh SY","year":"2018","journal-title":"J Neurol"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2017.00468"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0741-x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/j.ejpn.2005.06.007","article-title":"Opsoclonus\u2010myoclonus in an HIV\u2010infected child on antiretroviral therapy\u2010\u2010possible immune reconstitution inflammatory syndrome","volume":"9","author":"Toorn R","year":"2005","journal-title":"Eur J Paediatr Neurol"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120328"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2000.tb00087.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.5.1087"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200007)15:4<732::AID-MDS1021>3.0.CO;2-J"},{"key":"e_1_2_7_17_1","first-page":"OD07","article-title":"Gluten Sensitivity \u2010 A Potentially Reversible Cause of Progressive Cerebellar Ataxia and Myoclonus \u2010 A Case Report","volume":"9","author":"Khwaja GA","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/2053-8871-1-11"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neucli.2006.12.006"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870010306"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2012.04.003"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314464"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.4.1131"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.4.835"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl097"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20346"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.57.3.316"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27450"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-315942"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23397"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.088930"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv235"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0139552"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.1.122"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000096017.19978.CB"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh377"},{"key":"e_1_2_7_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02441.x"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01546.x"},{"key":"e_1_2_7_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(99)00028-5"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/386847a0"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.6.1050"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00553.x"},{"key":"e_1_2_7_43_1","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1186\/s12883-016-0738-5","article-title":"The network sustaining action myoclonus: a MEG\u2010EMG study in patients with EPM1","volume":"16","author":"Franceschetti S","year":"2016","journal-title":"BMC Neurol"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0835"},{"key":"e_1_2_7_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1388-2457(03)00066-X"},{"key":"e_1_2_7_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.11.1263"},{"key":"e_1_2_7_47_1","doi-asserted-by":"crossref","first-page":"374","DOI":"10.4103\/0377-4929.81645","article-title":"Lafora disease: a case report, pathologic and genetic study","volume":"54","author":"Harirchian MH","year":"2011","journal-title":"Indian J Pathol Microbiol"},{"key":"e_1_2_7_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2014.08.017"},{"key":"e_1_2_7_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2013.07.003"},{"key":"e_1_2_7_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039479"},{"key":"e_1_2_7_51_1","doi-asserted-by":"publisher","DOI":"10.1080\/00207454.2017.1337012"},{"key":"e_1_2_7_52_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000154519.10805.F7"},{"key":"e_1_2_7_53_1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.68660"},{"key":"e_1_2_7_54_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2009.00308.x"},{"key":"e_1_2_7_55_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt021"},{"key":"e_1_2_7_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12190"},{"key":"e_1_2_7_57_1","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1002\/mds.27412","article-title":"Progressive myoclonus ataxia: Time for a new definition?","volume":"33","author":"Veen S","year":"2018","journal-title":"Mov Disord"},{"key":"e_1_2_7_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25704"},{"key":"e_1_2_7_59_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13023-017-0595-3","article-title":"The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open\u2010label study","volume":"12","author":"Egmond ME","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_7_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.05.004"},{"key":"e_1_2_7_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_7_62_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy297"},{"key":"e_1_2_7_63_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-012-0889-3"},{"key":"e_1_2_7_64_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001784"},{"key":"e_1_2_7_65_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000010299"},{"key":"e_1_2_7_66_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2017.0911"},{"key":"e_1_2_7_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.04.007"},{"key":"e_1_2_7_68_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6545-z"},{"key":"e_1_2_7_69_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12730"},{"key":"e_1_2_7_70_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100859"},{"key":"e_1_2_7_71_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww244"},{"key":"e_1_2_7_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21121"},{"key":"e_1_2_7_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.01.006"},{"key":"e_1_2_7_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_7_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24929"},{"key":"e_1_2_7_76_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn124"},{"key":"e_1_2_7_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.04.011"},{"key":"e_1_2_7_78_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.120"},{"key":"e_1_2_7_79_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21765"},{"key":"e_1_2_7_80_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12057"},{"key":"e_1_2_7_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25114"},{"key":"e_1_2_7_82_1","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.235113"},{"key":"e_1_2_7_83_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12338"},{"key":"e_1_2_7_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25738"},{"key":"e_1_2_7_85_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03307.x"},{"key":"e_1_2_7_86_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.03.015"},{"key":"e_1_2_7_87_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.01.022"},{"key":"e_1_2_7_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.08.013"},{"key":"e_1_2_7_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27449"},{"key":"e_1_2_7_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2015.11.036"},{"key":"e_1_2_7_91_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000794"},{"key":"e_1_2_7_92_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2014.06.001"},{"key":"e_1_2_7_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.12.009"},{"key":"e_1_2_7_94_1","doi-asserted-by":"crossref","first-page":"298","DOI":"10.5334\/tohm.251","article-title":"Myoclonus in ataxia\u2010telangiectasia","volume":"5","author":"Termsarasab P","year":"2015","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"e_1_2_7_95_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2015.07.003"},{"key":"e_1_2_7_96_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-014-0643-7"},{"key":"e_1_2_7_97_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000600"},{"key":"e_1_2_7_98_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.0647"},{"key":"e_1_2_7_99_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-57"},{"key":"e_1_2_7_100_1","article-title":"Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review","author":"Ahn JH","year":"2019","journal-title":"Cerebellum"},{"key":"e_1_2_7_101_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000482"},{"key":"e_1_2_7_102_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-016-2286-9"},{"key":"e_1_2_7_103_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2018.02.005"},{"key":"e_1_2_7_104_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02622.x"},{"key":"e_1_2_7_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.12.005"},{"key":"e_1_2_7_106_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.52.8901"},{"key":"e_1_2_7_107_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0845"},{"key":"e_1_2_7_108_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.12.005"},{"key":"e_1_2_7_109_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.05.021"},{"key":"e_1_2_7_110_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.07.008"},{"key":"e_1_2_7_111_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-015-0499-8"},{"key":"e_1_2_7_112_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0227-7"},{"key":"e_1_2_7_113_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0145500"},{"key":"e_1_2_7_114_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1287812"},{"key":"e_1_2_7_115_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-012-0378-2"},{"key":"e_1_2_7_116_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134607.76780.B2"},{"key":"e_1_2_7_117_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301258"},{"key":"e_1_2_7_118_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306483"},{"key":"e_1_2_7_119_1","article-title":"Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia\u2010related phenotypes","author":"Sun M","year":"2018","journal-title":"Genet Med"},{"key":"e_1_2_7_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2010.05.008"},{"key":"e_1_2_7_121_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-173"},{"key":"e_1_2_7_122_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0159-0"},{"key":"e_1_2_7_123_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002325"},{"key":"e_1_2_7_124_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.01.016"},{"key":"e_1_2_7_125_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9945-x"},{"key":"e_1_2_7_126_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn366"},{"key":"e_1_2_7_127_1","doi-asserted-by":"publisher","DOI":"10.1086\/518902"},{"key":"e_1_2_7_128_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109576"},{"key":"e_1_2_7_129_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.09.004"},{"key":"e_1_2_7_130_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40625"},{"key":"e_1_2_7_131_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000148600.60470.E6"},{"key":"e_1_2_7_132_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.012"},{"key":"e_1_2_7_133_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.04.016"},{"key":"e_1_2_7_134_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120408"},{"key":"e_1_2_7_135_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00346-0"},{"key":"e_1_2_7_136_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6493-7"},{"key":"e_1_2_7_137_1","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1159\/000057903","article-title":"Dentatorubropallidoluysian atrophy with chronic renal failure in a Japanese family","volume":"47","author":"Ono S","year":"2002","journal-title":"Eur Neurol"},{"key":"e_1_2_7_138_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2252"},{"key":"e_1_2_7_139_1","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1212\/WNL.50.6.1887","article-title":"The brainstem and thalamic lesions in dentatorubral\u2010pallidoluysian atrophy: an MRI study","volume":"50","author":"Tomiyasu H","year":"1998","journal-title":"Neurology"},{"key":"e_1_2_7_140_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02757.x"},{"key":"e_1_2_7_141_1","first-page":"53","article-title":"Dentatorubral\u2010pallidoluysian atrophy in two Chinese families in Hong Kong","volume":"10","author":"Yam WK","year":"2004","journal-title":"Hong Kong Med J"},{"key":"e_1_2_7_142_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0690-4"},{"key":"e_1_2_7_143_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2005.02.063"},{"key":"e_1_2_7_144_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20159"},{"key":"e_1_2_7_145_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2006.01166.x"},{"key":"e_1_2_7_146_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20683"},{"key":"e_1_2_7_147_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.6.1573"},{"key":"e_1_2_7_148_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20074"},{"key":"e_1_2_7_149_1","doi-asserted-by":"crossref","first-page":"659","DOI":"10.3346\/jkms.1999.14.6.659","article-title":"Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics","volume":"14","author":"Kim JM","year":"1999","journal-title":"J Korean Med Sci"},{"key":"e_1_2_7_150_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050464"},{"key":"e_1_2_7_151_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20638"},{"key":"e_1_2_7_152_1","doi-asserted-by":"publisher","DOI":"10.1159\/000365285"},{"key":"e_1_2_7_153_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1997.00550210011007"},{"key":"e_1_2_7_154_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27334"},{"key":"e_1_2_7_155_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2009.10.008"},{"key":"e_1_2_7_156_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0522-7"},{"key":"e_1_2_7_157_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12042"},{"key":"e_1_2_7_158_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.8.1242"},{"key":"e_1_2_7_159_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23584"},{"key":"e_1_2_7_160_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1278-z"},{"key":"e_1_2_7_161_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21414"},{"key":"e_1_2_7_162_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20851"},{"key":"e_1_2_7_163_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.12.1749"},{"key":"e_1_2_7_164_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2<156::AID-ANA4>3.0.CO;2-9"},{"key":"e_1_2_7_165_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12020"},{"key":"e_1_2_7_166_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.003"},{"key":"e_1_2_7_167_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.4.517"},{"key":"e_1_2_7_168_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.6.802"},{"key":"e_1_2_7_169_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0713-y"},{"key":"e_1_2_7_170_1","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1017\/S0317167100005072","article-title":"A case of familial Creutzfeldt\u2010Jakob disease presenting with dry cough","volume":"33","author":"Larue S","year":"2006","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_7_171_1","doi-asserted-by":"publisher","DOI":"10.1080\/13554794.2011.654215"},{"key":"e_1_2_7_172_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.5.678"},{"key":"e_1_2_7_173_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.2004.00592.x"},{"key":"e_1_2_7_174_1","doi-asserted-by":"publisher","DOI":"10.4161\/pri.24674"},{"key":"e_1_2_7_175_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000008951"},{"key":"e_1_2_7_176_1","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/B978-0-444-64076-5.00029-6","article-title":"Prion disease","volume":"148","author":"Takada LT","year":"2018","journal-title":"Handb Clin Neurol"},{"key":"e_1_2_7_177_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)62035-1"},{"key":"e_1_2_7_178_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.49.2864"},{"key":"e_1_2_7_179_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103451"},{"key":"e_1_2_7_180_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37189"},{"key":"e_1_2_7_181_1","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s13039-018-0394-0","article-title":"Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant","volume":"11","author":"Sabatini PJB","year":"2018","journal-title":"Mol Cytogenet"},{"key":"e_1_2_7_182_1","article-title":"SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy","author":"Vlaskamp DRM","year":"2018","journal-title":"Neurology"},{"key":"e_1_2_7_183_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.08.001"},{"key":"e_1_2_7_184_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000129829.31179.5B"},{"key":"e_1_2_7_185_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2009.04.009"},{"key":"e_1_2_7_186_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.7.1122"},{"key":"e_1_2_7_187_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2017.01.007"},{"key":"e_1_2_7_188_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.016"},{"key":"e_1_2_7_189_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13986"},{"key":"e_1_2_7_190_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14531"},{"key":"e_1_2_7_191_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.07.012"},{"key":"e_1_2_7_192_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8086-3"},{"key":"e_1_2_7_193_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.2.377"},{"key":"e_1_2_7_194_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.5.1103"},{"key":"e_1_2_7_195_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170107"},{"key":"e_1_2_7_196_1","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0b013e318244477d"},{"key":"e_1_2_7_197_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-013-9464-5"},{"key":"e_1_2_7_198_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.26857"},{"key":"e_1_2_7_199_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199703)20:3<271::AID-MUS2>3.0.CO;2-8"},{"key":"e_1_2_7_200_1","doi-asserted-by":"publisher","DOI":"10.1038\/386847a0"},{"key":"e_1_2_7_201_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy297"},{"key":"e_1_2_7_202_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000794"},{"key":"e_1_2_7_203_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1997.00550210011007"},{"key":"e_1_2_7_204_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.6.858"},{"key":"e_1_2_7_205_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21414"},{"key":"e_1_2_7_206_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20851"},{"key":"e_1_2_7_207_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(99)00028-5"},{"key":"e_1_2_7_208_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-014-0643-7"},{"key":"e_1_2_7_209_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25704"},{"key":"e_1_2_7_210_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3144"},{"key":"e_1_2_7_211_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004518"},{"key":"e_1_2_7_212_1","first-page":"127","article-title":"Acute ataxia in children: approach to clinical presentation and role of additional investigations","volume":"44","author":"Poretti A","year":"2013","journal-title":"Neuropediatrics"},{"key":"e_1_2_7_213_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0841"},{"key":"e_1_2_7_214_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02441.x"},{"key":"e_1_2_7_215_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004996"},{"key":"e_1_2_7_216_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/118.5.1087"},{"key":"e_1_2_7_217_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20346"},{"key":"e_1_2_7_218_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2009.10.008"},{"key":"e_1_2_7_219_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-173"},{"key":"e_1_2_7_220_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23397"},{"key":"e_1_2_7_221_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120328"},{"key":"e_1_2_7_222_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002826-199206000-00002"},{"key":"e_1_2_7_223_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sleep.2013.09.025"},{"key":"e_1_2_7_224_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-018-0053-8"},{"key":"e_1_2_7_225_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.011"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13106","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mdc3.13106","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.13106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:54:57Z","timestamp":1760957697000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.13106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,3]]},"references-count":224,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/mdc3.13106"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.13106","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,3]]},"assertion":[{"value":"2020-04-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}