{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T02:07:39Z","timestamp":1792116459345,"version":"4.4.0"},"reference-count":105,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T00:00:00Z","timestamp":1553558400000},"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 Disorders"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The term \u201ccerebral palsy mimic\u201d is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral palsy. Cerebral palsy describes a heterogeneous group of neurodevelopmental disorders characterized by onset in infancy or early childhood of motor symptoms (including hypotonia, spasticity, dystonia, and chorea), often accompanied by developmental delay. The primary etiology of a cerebral palsy syndrome should always be identified if possible. This is particularly important in the case of genetic or metabolic disorders that have specific disease\u2010modifying treatment. In this article, we discuss clinical features that should alert the clinician to the possibility of a cerebral palsy mimic, provide a practical framework for selecting and interpreting neuroimaging, biochemical, and genetic investigations, and highlight selected conditions that may present with predominant spasticity, dystonia\/chorea, and ataxia. Making a precise diagnosis of a genetic disorder has important implications for treatment, and for advising the family regarding prognosis and genetic counseling. \u00a9 2019 International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.27655","type":"journal-article","created":{"date-parts":[[2019,3,26]],"date-time":"2019-03-26T19:27:12Z","timestamp":1553628432000},"page":"625-636","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":129,"title":["Genetic mimics of cerebral palsy"],"prefix":"10.1002","volume":"34","author":[{"given":"Toni S.","family":"Pearson","sequence":"first","affiliation":[{"name":"Department of Neurology Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Pons","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics National and Kapodistrian University of Athens, Aghia Sofia Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roula","family":"Ghaoui","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Adelaide Hospital  Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn M.","family":"Sue","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics Kolling Institute, Royal North Shore Hospital and University of Sydney  St Leonards NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1017\/S001216220500112X"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)73824-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.tb12609.x"},{"key":"e_1_2_9_5_1","volume-title":"The Cerebral Palsies of Children","author":"Osler W.","year":"1889"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005053-189005000-00002"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1985.tb04560.x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12629"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamapediatrics.2017.1689"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61835-8"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.82"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12262"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.43.9.789"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21747"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0043-6"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12228"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200120201"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0197-2"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-014-8331-9"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2004.04.010"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003867"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.03.009"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444896"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70040-7"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448639"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001494"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8949"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.83"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.1.e89"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_9_31_1","first-page":"445","article-title":"De novo occurrence of novel SPG3A\/atlastin mutation presenting as cerebral palsy","volume":"63","author":"Rainier S","year":"2006","journal-title":"JAMA Neurol"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1980"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.91.5.995"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.08.003"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389701200502"},{"key":"e_1_2_9_36_1","first-page":"69","article-title":"Familial hyperargininemia","volume":"20","author":"Terheggen HG","year":"1972","journal-title":"J Genet Hum"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198206103062303"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389400900213"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.001"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(03)00042-0"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2011.04.012"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199705000-00011"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.135"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70141-7"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.574"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1086\/321970"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2015.172"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.63.3.304"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.4.579"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302505"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12323"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(64)90104-4"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl056"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.9.1240"},{"key":"e_1_2_9_55_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.54"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26598"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.02.015"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.03.015"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27286"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000064"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000106"},{"key":"e_1_2_9_62_1","first-page":"1078","article-title":"Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans","volume":"26","author":"Lohmann K","year":"2017","journal-title":"Hum Mol Genet"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.09.011"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-017-0806-2"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.12.017"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0432-0"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.551"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.92"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1645884"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816666474"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.02.018"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.015"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12894"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002585"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-148"},{"key":"e_1_2_9_76_1","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1542\/peds.88.6.1194","article-title":"Glutaryl\u2010coenzyme A dehydrogenase deficiency: a distinct encephalopathy","volume":"88","author":"Hoffmann GF","year":"1991","journal-title":"Paediatrics"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0451-4"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.10.1654"},{"key":"e_1_2_9_79_1","first-page":"228","article-title":"Acute profound dystonia in infants with glutaric acidemia","volume":"83","author":"Bergman I","year":"1989","journal-title":"Pediatrics"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0187-y"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101658"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-15720-2_16"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.08.016"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1097\/ALN.0b013e31826be417"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.06.021"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2012-0543"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03185.x"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2013.06.008"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv117"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109053251006"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22808"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814531822"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp336"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22640"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20331"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.0298"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-872843"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7792600"},{"key":"e_1_2_9_99_1","first-page":"234","article-title":"Ataxia\u2010Telangiectasia: guidelines for diagnosis and comprehensive care","author":"Pietrucha B","year":"2007","journal-title":"Centr Eur J Immunol"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000794"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0543-7"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.319"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.102.1.98"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(98)80007-7"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1306388"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1194-9"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.27655","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mds.27655","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.27655","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:55:21Z","timestamp":1760954121000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.27655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,26]]},"references-count":105,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/mds.27655"],"URL":"https:\/\/doi.org\/10.1002\/mds.27655","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,26]]},"assertion":[{"value":"2018-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}