{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:44:01Z","timestamp":1790786641912,"version":"4.1.0"},"reference-count":217,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,5,14]],"date-time":"2018-05-14T00:00:00Z","timestamp":1526256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"publisher","award":["LC: K2013\u201054X\u201011285\u201019"],"award-info":[{"award-number":["LC: K2013\u201054X\u201011285\u201019"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008440","name":"International Parkinson and Movement Disorder Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>The recessive cerebellar ataxias are a large group of degenerative and metabolic disorders, the diagnostic management of which is difficult because of the enormous clinical and genetic heterogeneity. Because of several limitations, the current classification systems provide insufficient guidance for clinicians and researchers. Here, we propose a new nomenclature for the genetically confirmed recessive cerebellar ataxias according to the principles and criteria laid down by the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. We apply stringent criteria for considering an association between gene and phenotype to be established. The newly proposed list of recessively inherited cerebellar ataxias includes 62 disorders that were assigned an ATX prefix, followed by the gene name, because these typically present with ataxia as a predominant and\/or consistent feature. An additional 30 disorders that often combine ataxia with a predominant or consistent other movement disorder received a double prefix (e.g., ATX\/HSP). We also identified a group of 89 entities that usually present with complex nonataxia phenotypes, but may occasionally present with cerebellar ataxia. These are listed separately without the ATX prefix. This new, transparent and adaptable nomenclature of the recessive cerebellar ataxias will facilitate the clinical recognition of recessive ataxias, guide diagnostic testing in ataxia patients, and help in interpreting genetic findings. \u00a9 2018 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.27415","type":"journal-article","created":{"date-parts":[[2018,5,14]],"date-time":"2018-05-14T03:06:15Z","timestamp":1526267175000},"page":"1056-1076","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":91,"title":["The genetic nomenclature of recessive cerebellar ataxias"],"prefix":"10.1002","volume":"33","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 Raul Carrea Institute for Neurological Research Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Anheim","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie H\u00f4pitaux Universitaires de Strasbourg, H\u00f4pital de Hautepierre Strasbourg France"},{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire INSERM\u2010U964\/CNRS\u2010UMR7104\/Universit\u00e9 de Strasbourg Illkirch France"},{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg Universit\u00e9 de Strasbourg Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Brain and Spine Institute, Sorbonne Universit\u00e9, Inserm U1127, CNRS UMR 7225 Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital Paris France"},{"name":"Department of Genetics, AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re University Hospital 7501 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of Luebeck Luebeck Germany"},{"name":"Department of Neurology University Hospital Schleswig\u2010Holstein Campus L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Koenig","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique de Maladies Rares, EA7402, Institut Universitaire de Recherche Clinique Universit\u00e9 de Montpellier, CHU Montpellier Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"German Center for Neurodegenerative Diseases T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Connie","family":"Marras","sequence":"additional","affiliation":[{"name":"Toronto Western Hospital Morton, Gloria Shulman Movement Disorders Centre, and the Edmond J. Safra Program in Parkinson's Disease University of Toronto Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart P.","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"}]},{"name":"on behalf of the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1006610"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26944"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31824d58ab"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26527"},{"key":"e_1_2_9_6_1","volume-title":"Handbook of Clinical Neurology","author":"Synofzik M","year":"2008"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26651"},{"key":"e_1_2_9_8_1","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding AE","year":"1993","journal-title":"Adv Neurol"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100210"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-004-0484-2"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40673-017-0061-y"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25084"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.743"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.002"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.024"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.022"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1419"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/425985"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/301964"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.12.6982"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.015"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-184"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1001-189"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.023"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115209"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0995-96"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi328"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000487"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1805"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds473"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001053"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(20)89518-0"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036657"},{"key":"e_1_2_9_36_1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s004399900142","article-title":"G130V, a common FRDA point mutation, appears to have arisen from a common founder","volume":"105","author":"Delatycki MB","year":"1999","journal-title":"Hum Genet"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.20.11492"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813484967"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.004"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0901749106"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq181"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh300"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.717"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81547-0"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23262"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5323.228"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2298"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.002"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10035"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10124"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1086\/301963"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-185"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-88"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv057"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.003"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.149"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.12.042"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215993"},{"key":"e_1_2_9_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1303"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1677"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/70585"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.030"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt315"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.259"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.007"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003074"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.06.001"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0081884"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1927"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-141"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.007"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20924"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1086\/510499"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067249"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2069"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2039"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.002"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101132"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.761"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1086\/444400"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.10.011"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.126110.111"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002325"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2013"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.005"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1086\/422763"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)37323-X"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)67145-5"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt326"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.018"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-016-0769-x"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102856"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6614"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.014"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1038\/72769"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.006"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.04.002"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70053-X"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.10.001"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1038\/81701"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.021"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0328-0"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102012"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.1086\/319519"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-257"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81203-9"},{"key":"e_1_2_9_110_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1222732110"},{"key":"e_1_2_9_111_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.010"},{"key":"e_1_2_9_112_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22292"},{"key":"e_1_2_9_113_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5333.1802"},{"key":"e_1_2_9_114_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5256.1731"},{"key":"e_1_2_9_115_1","doi-asserted-by":"publisher","DOI":"10.1038\/2470"},{"key":"e_1_2_9_116_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.011"},{"key":"e_1_2_9_117_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21121"},{"key":"e_1_2_9_118_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.24.3156"},{"key":"e_1_2_9_119_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1238"},{"key":"e_1_2_9_120_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1293-327"},{"key":"e_1_2_9_121_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309025"},{"key":"e_1_2_9_122_1","doi-asserted-by":"publisher","DOI":"10.1086\/379522"},{"key":"e_1_2_9_123_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.017"},{"key":"e_1_2_9_124_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000408"},{"key":"e_1_2_9_125_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1980"},{"key":"e_1_2_9_126_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.117143.110"},{"key":"e_1_2_9_127_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.03.004"},{"key":"e_1_2_9_128_1","doi-asserted-by":"publisher","DOI":"10.1038\/975"},{"key":"e_1_2_9_129_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.004"},{"key":"e_1_2_9_130_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.019"},{"key":"e_1_2_9_131_1","first-page":"566","article-title":"GM1\u2010gangliosidosis (genetic beta\u2010galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients","volume":"49","author":"Nishimoto J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_132_1","doi-asserted-by":"publisher","DOI":"10.1086\/321970"},{"key":"e_1_2_9_133_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.7.2539"},{"key":"e_1_2_9_134_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng572"},{"key":"e_1_2_9_135_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1826"},{"key":"e_1_2_9_136_1","doi-asserted-by":"publisher","DOI":"10.1038\/81642"},{"key":"e_1_2_9_137_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000497"},{"key":"e_1_2_9_138_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1227"},{"key":"e_1_2_9_139_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng862"},{"key":"e_1_2_9_140_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx094"},{"key":"e_1_2_9_141_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.007"},{"key":"e_1_2_9_142_1","doi-asserted-by":"publisher","DOI":"10.1086\/344712"},{"key":"e_1_2_9_143_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400104"},{"key":"e_1_2_9_144_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.011"},{"key":"e_1_2_9_145_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1084"},{"key":"e_1_2_9_146_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1243"},{"key":"e_1_2_9_147_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1977"},{"key":"e_1_2_9_148_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds558"},{"key":"e_1_2_9_149_1","doi-asserted-by":"publisher","DOI":"10.1086\/511134"},{"key":"e_1_2_9_150_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-32"},{"key":"e_1_2_9_151_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.11.5186"},{"key":"e_1_2_9_152_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng764"},{"key":"e_1_2_9_153_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05456"},{"key":"e_1_2_9_154_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80155-5"},{"key":"e_1_2_9_155_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2254"},{"key":"e_1_2_9_156_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.1071"},{"key":"e_1_2_9_157_1","first-page":"275","article-title":"Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene","volume":"47","author":"Dahl N","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_158_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn328"},{"key":"e_1_2_9_159_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1092780"},{"key":"e_1_2_9_160_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.02.009"},{"key":"e_1_2_9_161_1","doi-asserted-by":"publisher","DOI":"10.1086\/510725"},{"key":"e_1_2_9_162_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.007"},{"key":"e_1_2_9_163_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.242716699"},{"key":"e_1_2_9_164_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1091"},{"key":"e_1_2_9_165_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1247363"},{"key":"e_1_2_9_166_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023804"},{"key":"e_1_2_9_167_1","doi-asserted-by":"publisher","DOI":"10.1086\/518902"},{"key":"e_1_2_9_168_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-72"},{"key":"e_1_2_9_169_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1683"},{"key":"e_1_2_9_170_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.8.1108"},{"key":"e_1_2_9_171_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2011.07.010"},{"key":"e_1_2_9_172_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.12.2109"},{"key":"e_1_2_9_173_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.2.258"},{"key":"e_1_2_9_174_1","doi-asserted-by":"publisher","DOI":"10.1086\/421846"},{"key":"e_1_2_9_175_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.659"},{"key":"e_1_2_9_176_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu184"},{"key":"e_1_2_9_177_1","doi-asserted-by":"publisher","DOI":"10.1086\/324651"},{"key":"e_1_2_9_178_1","doi-asserted-by":"publisher","DOI":"10.1086\/301653"},{"key":"e_1_2_9_179_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.779"},{"key":"e_1_2_9_180_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.005"},{"key":"e_1_2_9_181_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.526"},{"key":"e_1_2_9_182_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000030"},{"key":"e_1_2_9_183_1","doi-asserted-by":"crossref","first-page":"2332","DOI":"10.1016\/S0021-9258(18)61658-8","article-title":"A human purine nucleoside phosphorylase deficiency caused by a single base change","volume":"262","author":"Williams SR","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_9_184_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00216-X"},{"key":"e_1_2_9_185_1","doi-asserted-by":"publisher","DOI":"10.1038\/90034"},{"key":"e_1_2_9_186_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20079"},{"key":"e_1_2_9_187_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201002"},{"key":"e_1_2_9_188_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8623"},{"key":"e_1_2_9_189_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.286.5446.1957"},{"key":"e_1_2_9_190_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.20"},{"key":"e_1_2_9_191_1","doi-asserted-by":"publisher","DOI":"10.1086\/520706"},{"key":"e_1_2_9_192_1","doi-asserted-by":"crossref","first-page":"26476","DOI":"10.1016\/S0021-9258(19)74339-7","article-title":"Human X\u2010linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene","volume":"268","author":"Roessler BJ","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_9_193_1","doi-asserted-by":"publisher","DOI":"10.1086\/519529"},{"key":"e_1_2_9_194_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.415"},{"key":"e_1_2_9_195_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24167"},{"key":"e_1_2_9_196_1","doi-asserted-by":"publisher","DOI":"10.1038\/79246"},{"key":"e_1_2_9_197_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.012"},{"key":"e_1_2_9_198_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2040"},{"key":"e_1_2_9_199_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.09.012"},{"key":"e_1_2_9_200_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-188"},{"key":"e_1_2_9_201_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1405"},{"key":"e_1_2_9_202_1","doi-asserted-by":"publisher","DOI":"10.1086\/380999"},{"key":"e_1_2_9_203_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt013"},{"key":"e_1_2_9_204_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170075"},{"key":"e_1_2_9_205_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3354"},{"key":"e_1_2_9_206_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws161"},{"key":"e_1_2_9_207_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3661"},{"key":"e_1_2_9_208_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80488-2"},{"key":"e_1_2_9_209_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a4a518"},{"key":"e_1_2_9_210_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.891"},{"key":"e_1_2_9_211_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.04.019"},{"key":"e_1_2_9_212_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.017"},{"key":"e_1_2_9_213_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.028"},{"key":"e_1_2_9_214_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-08-591370"},{"key":"e_1_2_9_215_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.7184"},{"key":"e_1_2_9_216_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.006"},{"key":"e_1_2_9_217_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2021"},{"key":"e_1_2_9_218_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160572.113"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.27415","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.27415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:01:33Z","timestamp":1760954493000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.27415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,14]]},"references-count":217,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1002\/mds.27415"],"URL":"https:\/\/doi.org\/10.1002\/mds.27415","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,14]]},"assertion":[{"value":"2018-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}