{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T21:40:51Z","timestamp":1783806051207,"version":"3.55.0"},"reference-count":110,"publisher":"Ubiquity Press, Ltd.","license":[{"start":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:00:00Z","timestamp":1696550400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["TOHM"],"abstract":"<jats:p>Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field. Methods: A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines. Results: The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited. Discussion: This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.<\/jats:p>","DOI":"10.5334\/tohm.801","type":"journal-article","created":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T13:15:10Z","timestamp":1696598110000},"page":"36","source":"Crossref","is-referenced-by-count":3,"title":["Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism"],"prefix":"10.5334","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dar\u00edo","family":"Ortigoza-Escobar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3285","published-online":{"date-parts":[[2023,10,6]]},"reference":[{"issue":"11","key":"key20231006091504_B1","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1002\/mds.23088","article-title":"Definition and classification of hyperkinetic movements in childhood","volume":"25","year":"2010","journal-title":"Mov Disord"},{"key":"key20231006091504_B2","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.clinph.2022.05.014","article-title":"Dystonia, chorea, hemiballismus and other dyskinesias","volume":"140","year":"2022","journal-title":"Clin Neurophysiol"},{"issue":"7","key":"key20231006091504_B3","doi-asserted-by":"crossref","first-page":"275","DOI":"10.2183\/pjab.94.019","article-title":"Functions and dysfunctions of the basal ganglia in humans","volume":"94","year":"2018","journal-title":"Proc Japan Acad Ser B Phys Biol Sci"},{"issue":"1","key":"key20231006091504_B4","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1002\/mds.27174","article-title":"Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum","volume":"33","year":"2018","journal-title":"Mov Disord"},{"issue":"5","key":"key20231006091504_B5","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/mds.870090502","article-title":"Movement disorders following lesions of the thalamus or subthalamic region","volume":"9","year":"1994","journal-title":"Mov Disord"},{"key":"key20231006091504_B6","first-page":"1","article-title":"Early controversies over athetosis: I. clinical features, differentiation from other movement disorders, associated conditions, and pathology","volume":"3","year":"2013","journal-title":"Tremor and Other Hyperkinetic Movements"},{"issue":"3","key":"key20231006091504_B7","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s11940-005-0013-3","article-title":"Hemiballismus","volume":"7","year":"2005","journal-title":"Curr Treat Options Neurol"},{"issue":"2","key":"key20231006091504_B8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1017\/S0317167100046825","article-title":"Persistent Hemiballismus with Lesions Outside the Subthalamic Nucleus","volume":"12","year":"1985","journal-title":"Can J Neurol Sci\/J Can des Sci Neurol"},{"key":"key20231006091504_B9","doi-asserted-by":"crossref","first-page":"582160","DOI":"10.3389\/fneur.2020.582160","article-title":"A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders","volume":"11","year":"2020","journal-title":"Front Neurol"},{"issue":"5","key":"key20231006091504_B10","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/mds.27661","article-title":"Current therapies and therapeutic decision making for childhood-onset movement disorders","volume":"34","year":"2019","journal-title":"Mov Disord"},{"issue":"1","key":"key20231006091504_B11","first-page":"4","article-title":"Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies","volume":"15","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"key20231006091504_B12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10545-016-9991-4","article-title":"Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency","volume":"40","year":"2017","journal-title":"J Inherit Metab Dis"},{"issue":"8\u20139","key":"key20231006091504_B13","first-page":"524","article-title":"Movement disorders in mitochondrial diseases","volume":"172","year":"2016","journal-title":"Rev Neurol (Paris)"},{"issue":"September 2018","key":"key20231006091504_B14","first-page":"179","article-title":"PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression","volume":"61","year":"2019","journal-title":"Park Relat Disord"},{"issue":"2","key":"key20231006091504_B15","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/mdc3.12573","article-title":"The Spectrum of Movement Disorders in Childhood-onset Lysosomal Storage Diseases","volume":"5","year":"2018","journal-title":"Mov Disord Clin Pract"},{"issue":"9","key":"key20231006091504_B16","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1111\/ene.14007","article-title":"Hyperkinetic movement disorders in congenital disorders of glycosylation","volume":"26","year":"2019","journal-title":"Eur J Neurol"},{"issue":"July 2018","key":"key20231006091504_B17","first-page":"12","article-title":"Movement disorders in cerebrotendinous xanthomatosis","volume":"58","year":"2019","journal-title":"Park Relat Disord"},{"issue":"6","key":"key20231006091504_B18","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1002\/ana.25110","article-title":"Progressive deafness\u2013dystonia due to SERAC1 mutations: A study of 67 cases","volume":"82","year":"2017","journal-title":"Ann Neurol"},{"issue":"Idd","key":"key20231006091504_B19","first-page":"197","article-title":"Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review","volume":"9","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"key20231006091504_B20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.pediatrneurol.2012.04.013","article-title":"Pediatric Neurology Molybdenum Cofactor Deficiency Mimics Cerebral Palsy: Differentiating Factors for Diagnosis","volume":"47","year":"2012","journal-title":"Pediatr Neurol"},{"issue":"4","key":"key20231006091504_B21","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1016\/j.ymgme.2021.06.006","article-title":"Childhood-onset hereditary spastic paraplegia and its treatable mimics","volume":"137","year":"2022","journal-title":"Mol Genet Metab"},{"issue":"1","key":"key20231006091504_B22","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1097\/EDE.0b013e3181fe7999","article-title":"PRISMA statement","volume":"22","year":"2011","journal-title":"Epidemiology"},{"key":"key20231006091504_B23","volume-title":"Movement disorders in childhood","year":"2015"},{"key":"key20231006091504_B24","first-page":"682","year":"2001","journal-title":"Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report"},{"issue":"4","key":"key20231006091504_B25","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/BF00441354","article-title":"3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy","volume":"129","year":"1978","journal-title":"Eur J Pediatr"},{"issue":"8","key":"key20231006091504_B26","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1002\/mds.25538","article-title":"A treatable new cause of chorea: Beta-ketothiolase deficiency","volume":"28","year":"2013","journal-title":"Mov Disord"},{"issue":"SUPPL","key":"key20231006091504_B27","first-page":"94","article-title":"Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations","volume":"16","year":"1994","journal-title":"Brain Dev"},{"issue":"3","key":"key20231006091504_B28","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1002\/humu.9319","article-title":"A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of \u03b1-ketoglutarate dehydrogenase deficiency","volume":"25","year":"2005","journal-title":"Hum Mutat"},{"issue":"1\u20132","key":"key20231006091504_B29","first-page":"68","article-title":"Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant","volume":"119","year":"2016","journal-title":"Mol Genet Metab"},{"issue":"19","key":"key20231006091504_B30","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.medcli.2009.06.065","article-title":"Deficiencia cerebral de creatina: primeros pacientes espa\u00f1oles con mutaciones en el gen GAMT","volume":"133","year":"2009","journal-title":"Med Clin (Barc)"},{"issue":"1","key":"key20231006091504_B31","first-page":"1","article-title":"Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: A case report","volume":"13","year":"2019","journal-title":"J Med Case Rep"},{"key":"key20231006091504_B32","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.parkreldis.2022.10.016","article-title":"Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant","volume":"104","year":"2022","journal-title":"Park Relat Disord"},{"issue":"5","key":"key20231006091504_B33","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1002\/mds.870110519","article-title":"Lesch-Nyhan variant: dystonia, ataxia, near-normal intelligence, and no self-mutilation","volume":"11","year":"1996","journal-title":"Mov Disord"},{"issue":"4","key":"key20231006091504_B34","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.pedneo.2012.12.016","article-title":"Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child \u2013 A case report and literature review","volume":"55","year":"2014","journal-title":"Pediatr Neonatol"},{"issue":"1","key":"key20231006091504_B35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/15257770.2016.1163381","article-title":"Novel mutation in HPRT1 causing a splicing error with multiple variations","volume":"36","year":"2017","journal-title":"Nucleosides, Nucleotides and Nucleic Acids"},{"issue":"11","key":"key20231006091504_B36","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1212\/WNL.30.11.1163","article-title":"Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis","volume":"30","year":"1980","journal-title":"Neurology"},{"issue":"1","key":"key20231006091504_B37","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1001\/archneur.1969.00480070054006","article-title":"Congenital Hyperuricemia","volume":"20","year":"1969","journal-title":"Arch Neurol"},{"issue":"11","key":"key20231006091504_B38","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1007\/s00467-007-0566-3","article-title":"Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis","volume":"22","year":"2007","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"key20231006091504_B39","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/0002-9343(64)90104-4","article-title":"A familial disorder of uric acid metabolism and central nervous system function","volume":"36","year":"1964","journal-title":"Am J Med"},{"issue":"10","key":"key20231006091504_B40","first-page":"1323","article-title":"Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation","volume":"130","year":"1984","journal-title":"Can Med Assoc J"},{"issue":"1","key":"key20231006091504_B41","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1055\/s-0028-1091839","article-title":"Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children","volume":"2","year":"1970","journal-title":"Neuropadiatrie"},{"issue":"5","key":"key20231006091504_B42","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1172\/JCI106316","article-title":"Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency","volume":"49","year":"1970","journal-title":"J Clin Invest"},{"issue":"1","key":"key20231006091504_B43","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1445-5994.1972.tb03909.x","article-title":"The Lesch-Nyhan Syndrome: Report of Three Cases","volume":"2","year":"1972","journal-title":"Aust N Z J Med"},{"issue":"6","key":"key20231006091504_B44","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1136\/jmg.2010.087114","article-title":"Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN","volume":"48","year":"2011","journal-title":"J Med Genet"},{"issue":"2","key":"key20231006091504_B45","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1093\/hmg\/ddt434","article-title":"A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation","volume":"23","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"2","key":"key20231006091504_B46","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1055\/s-2008-1071515","article-title":"Disorders of movement in Leigh syndrome","volume":"24","year":"1993","journal-title":"Neuropediatrics"},{"issue":"6","key":"key20231006091504_B47","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1001\/jamaneurol.2013.1174","article-title":"A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping","volume":"70","year":"2013","journal-title":"JAMA Neurol"},{"issue":"6","key":"key20231006091504_B48","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/j.ejpn.2015.06.006","article-title":"Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep","volume":"19","year":"2015","journal-title":"Eur J Paediatr Neurol"},{"issue":"4","key":"key20231006091504_B49","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s10545-005-0525-8","article-title":"OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria","volume":"28","year":"2005","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"key20231006091504_B50","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1007\/s00415-014-7481-x","article-title":"Costeff syndrome: clinical features and natural history","volume":"261","year":"2014","journal-title":"J Neurol"},{"issue":"6","key":"key20231006091504_B51","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1002\/ana.25204","article-title":"Recessive mutations in VPS13D cause childhood onset movement disorders","volume":"83","year":"2018","journal-title":"Ann Neurol"},{"issue":"1","key":"key20231006091504_B52","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/s00415-013-7159-9","article-title":"Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease","volume":"261","year":"2014","journal-title":"J Neurol"},{"issue":"3","key":"key20231006091504_B53","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/mds.870100304","article-title":"What is it? Case 1, 1995: Psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction","volume":"10","year":"1995","journal-title":"Mov Disord"},{"issue":"10","key":"key20231006091504_B54","doi-asserted-by":"crossref","first-page":"1487","DOI":"10.1002\/mds.22145","article-title":"A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings","volume":"23","year":"2008","journal-title":"Mov Disord"},{"issue":"4","key":"key20231006091504_B55","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1007\/BF01955534","article-title":"Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy","volume":"150","year":"1991","journal-title":"Eur J Pediatr"},{"issue":"2","key":"key20231006091504_B56","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1159\/000116100","article-title":"Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature","volume":"25","year":"1986","journal-title":"Eur Neurol"},{"issue":"1","key":"key20231006091504_B57","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1399-0004.1978.tb04131.x","article-title":"Glutaric aciduria in progressive choreo-athetosis","volume":"13","year":"1978","journal-title":"Clin Genet"},{"key":"key20231006091504_B58","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.pediatrneurol.2016.02.015","article-title":"Chorea in late-infantile neuronal ceroid lipofuscinosis: An atypical presentation","volume":"60","year":"2016","journal-title":"Pediatr Neurol"},{"issue":"2","key":"key20231006091504_B59","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1177\/088307388600100209","article-title":"Neuronal ceroid lipofuscinosis with hypergonadotropic hypogonadism","volume":"1","year":"1986","journal-title":"J Child Neurol"},{"issue":"2","key":"key20231006091504_B60","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/mds.20699","article-title":"Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency","volume":"21","year":"2006","journal-title":"Mov Disord"},{"issue":"10","key":"key20231006091504_B61","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s00234-009-0536-5","article-title":"Wilson\u2019s disease: Two treatment modalities. Correlations to pretreatment and posttreatment brain MRI","volume":"51","year":"2009","journal-title":"Neuroradiology"},{"issue":"July","key":"key20231006091504_B62","first-page":"70","article-title":"Atypical brain MRI in neurological Wilson disease","volume":"78","year":"2020","journal-title":"Park Relat Disord"},{"issue":"4","key":"key20231006091504_B63","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000148691","article-title":"The neurological presentation of ceruloplasmin gene mutations","volume":"60","year":"2008","journal-title":"Eur Neurol"},{"issue":"3","key":"key20231006091504_B64","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000008091","article-title":"A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: Administration of fresh-frozen human plasma","volume":"42","year":"1999","journal-title":"Eur Neurol"},{"issue":"6","key":"key20231006091504_B65","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1017\/cjn.2016.286","article-title":"Movement disorders associated with hemochromatosis","volume":"43","year":"2016","journal-title":"Can J Neurol Sci"},{"issue":"7","key":"key20231006091504_B66","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1007\/s00415-004-0445-9","article-title":"Hereditary haemochromatosis is unlikely to cause movement disorders: A critical review","volume":"251","year":"2004","journal-title":"J Neurol"},{"issue":"2","key":"key20231006091504_B67","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ejpn.2008.03.008","article-title":"Aromatic l-amino acid decarboxylase deficiency in Taiwan","volume":"13","year":"2009","journal-title":"Eur J Paediatr Neurol"},{"issue":"5","key":"key20231006091504_B68","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/S0022-3476(77)81239-0","article-title":"Glutaric aciduria: Clinical and laboratory findings in two brothers","volume":"90","year":"1977","journal-title":"J Pediatr"},{"issue":"2","key":"key20231006091504_B69","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1212\/WNL.0000000000006744","article-title":"Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency","volume":"92","year":"2019","journal-title":"Neurology"},{"issue":"20","key":"key20231006091504_B70","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1212\/WNL.0000000000003936","article-title":"Phenotype of GABA-transaminase deficiency","volume":"88","year":"2017","journal-title":"Neurology"},{"key":"key20231006091504_B71","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.pediatrneurol.2015.10.009","article-title":"Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency","volume":"58","year":"2016","journal-title":"Pediatr Neurol"},{"issue":"1","key":"key20231006091504_B72","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s10545-006-0123-4","article-title":"X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype","volume":"29","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"key20231006091504_B73","first-page":"110","article-title":"Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation","volume":"130","year":"2007","journal-title":"Brain"},{"issue":"3","key":"key20231006091504_B74","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.ajhg.2013.07.016","article-title":"Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy","volume":"93","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"18","key":"key20231006091504_B75","doi-asserted-by":"crossref","first-page":"5009","DOI":"10.1093\/hmg\/ddu218","article-title":"Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia","volume":"23","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"4","key":"key20231006091504_B76","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1007\/s00431-002-1135-1","article-title":"Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: Metabolic stroke involving the caudate and putamen without metabolic decompensation","volume":"162","year":"2003","journal-title":"Eur J Pediatr"},{"issue":"1","key":"key20231006091504_B77","first-page":"1","article-title":"Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy","volume":"13","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"key20231006091504_B78","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1093\/brain\/awx013","article-title":"SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome","volume":"140","year":"2017","journal-title":"Brain"},{"issue":"2","key":"key20231006091504_B79","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S0022-3476(96)70399-2","article-title":"Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations","volume":"128","year":"1996","journal-title":"J Pediatr"},{"issue":"11","key":"key20231006091504_B80","doi-asserted-by":"crossref","first-page":"3229","DOI":"10.1111\/ene.15515","article-title":"Movement disorders in valine m\u00e9tabolism diseases caused by HIBCH and ECHS1 deficiencies","volume":"29","year":"2022","journal-title":"Eur J Neurol"},{"issue":"9","key":"key20231006091504_B81","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1002\/ajmg.a.37127","article-title":"Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)","volume":"167","year":"2015","journal-title":"Am J Med Genet Part A"},{"issue":"2","key":"key20231006091504_B82","first-page":"100","article-title":"X-Linked Primary Hyperuricaemia (Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Encephalopathy)","volume":"12","year":"1968","journal-title":"J Ment Defic Res"},{"issue":"2","key":"key20231006091504_B83","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/gim.2016.75","article-title":"Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation","volume":"19","year":"2017","journal-title":"Genet Med"},{"issue":"2","key":"key20231006091504_B84","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/s12031-020-01654-0","article-title":"Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury","volume":"71","year":"2021","journal-title":"J Mol Neurosci"},{"issue":"6","key":"key20231006091504_B85","doi-asserted-by":"crossref","first-page":"3496","DOI":"10.1007\/s12035-023-03276-0","article-title":"A Study of Dopaminergic Pathway in Neurologic Wilson Disease with Movement Disorder","volume":"60","year":"2023","journal-title":"Mol Neurobiol"},{"issue":"12","key":"key20231006091504_B86","doi-asserted-by":"crossref","first-page":"2192","DOI":"10.1002\/mds.21170","article-title":"Neurological manifestations in Wilson\u2019s disease: Report of 119 cases","volume":"21","year":"2006","journal-title":"Mov Disord"},{"issue":"4","key":"key20231006091504_B87","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1097\/NRL.0b013e31825cf3b7","article-title":"Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease","volume":"18","year":"2012","journal-title":"Neurologist"},{"issue":"6","key":"key20231006091504_B88","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1136\/jnnp.2003.026310","article-title":"Wilson\u2019s disease: Diagnostic errors and clinical implications","volume":"75","year":"2004","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"key20231006091504_B89","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1001\/archneur.1987.00520160007005","article-title":"Clinical Assessment of 31 Patients With Wilson\u2019s Disease: Correlations With Structural Changes on Magnetic Resonance Imaging","volume":"44","year":"1987","journal-title":"Arch Neurol"},{"issue":"5","key":"key20231006091504_B90","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.pediatrneurol.2014.01.018","article-title":"Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene","volume":"50","year":"2014","journal-title":"Pediatr Neurol"},{"issue":"2","key":"key20231006091504_B91","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1097\/MD.0b013e318045a00e","article-title":"Wilson disease: Description of 282 patients evaluated over 3 decades","volume":"86","year":"2007","journal-title":"Medicine (Baltimore)"},{"issue":"1\u20132","key":"key20231006091504_B92","first-page":"183","article-title":"Characteristics of neurological Wilson\u2019s disease without Kayser-Fleischer ring","volume":"323","year":"2012","journal-title":"J Neurol Sci"},{"key":"key20231006091504_B93","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.clineuro.2015.07.013","article-title":"A study of MRI changes in Wilson disease and its correlation with clinical features and outcome","volume":"138","year":"2015","journal-title":"Clin Neurol Neurosurg"},{"issue":"1","key":"key20231006091504_B94","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s12098-009-0037-x","article-title":"Galactosemia with chorea \u2013 An unusual presentation","volume":"76","year":"2009","journal-title":"Indian J Pediatr"},{"issue":"11","key":"key20231006091504_B95","first-page":"1410","article-title":"Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome","volume":"66","year":"2009","journal-title":"Arch Neurol"},{"issue":"1","key":"key20231006091504_B96","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0006-3223(85)90134-9","article-title":"Prevalence of partial cerebroside sulfate sulfatase (Arylsulfatase A) defect in adult psychiatric patients","volume":"20","year":"1985","journal-title":"Biol Psychiatry"},{"issue":"February","key":"key20231006091504_B97","first-page":"817753","article-title":"Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington\u2019s Disease Phenocopy","volume":"13","year":"2022","journal-title":"Front Neurol"},{"issue":"04","key":"key20231006091504_B98","first-page":"327","article-title":"Touretismo, hemibalismo y parkinsonismo juvenil: expandiendo el espectro cl\u00ednico de la neurodegeneraci\u00f3n asociada a deficiencia de pantotenato cinasa (s\u00edndrome de HallervordenSpatz)","volume":"38","year":"2004","journal-title":"Rev Neurol"},{"issue":"1","key":"key20231006091504_B99","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/mdc3.12136","article-title":"Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea","volume":"2","year":"2015","journal-title":"Mov Disord Clin Pract"},{"issue":"1\u20132","key":"key20231006091504_B100","first-page":"152","article-title":"Serum vitamin B12 deficiency and hyperhomocystinemia: A reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia","volume":"273","year":"2008","journal-title":"J Neurol Sci"},{"issue":"2","key":"key20231006091504_B101","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1111\/jon.12084","article-title":"Susceptibility Weighted Imaging Features of Nonketotic Hyperglycemia: Unusual Cause of Hemichorea-Hemiballismus","volume":"25","year":"2015","journal-title":"J Neuroimaging"},{"issue":"3","key":"key20231006091504_B102","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s10545-017-0131-6","article-title":"Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients","volume":"41","year":"2018","journal-title":"J Inherit Metab Dis"},{"issue":"11","key":"key20231006091504_B103","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1136\/archdischild-2017-312738","article-title":"Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing","volume":"102","year":"2017","journal-title":"Arch Dis Child"},{"issue":"5","key":"key20231006091504_B104","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.22095","article-title":"Use of guidelines improves the neurological outcome in glutaric aciduria type i","volume":"68","year":"2010","journal-title":"Ann Neurol"},{"issue":"2","key":"key20231006091504_B105","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1097\/MPG.0000000000001787","article-title":"Wilson\u2019s Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition","volume":"66","year":"2018","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"key20231006091504_B106","volume-title":"GeneReviews\u00ae [Internet]","year":"1993\u20132023"},{"key":"key20231006091504_B107","volume-title":"GeneReviews\u00ae [Internet]","year":"1993\u20132023"},{"key":"key20231006091504_B108","volume-title":"GeneReviews\u00ae [Internet]","year":"1993\u20132023"},{"key":"key20231006091504_B109","volume-title":"GeneReviews\u00ae [Internet]","year":"1993\u20132023"},{"key":"key20231006091504_B110","volume-title":"GeneReviews\u00ae [Internet]","year":"1993\u20132023"}],"container-title":["Tremor and Other Hyperkinetic Movements"],"original-title":[],"link":[{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1757","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1758","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1759","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1760","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1761","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1762","content-type":"application\/vnd.openxmlformats-officedocument.spreadsheetml.sheet","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1763","content-type":"application\/vnd.openxmlformats-officedocument.spreadsheetml.sheet","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/download\/801\/1757","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,23]],"date-time":"2023-12-23T13:02:23Z","timestamp":1703336543000},"score":1,"resource":{"primary":{"URL":"https:\/\/account.tremorjournal.org\/index.php\/up-j-tohm\/article\/view\/801"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,6]]},"references-count":110,"URL":"https:\/\/doi.org\/10.5334\/tohm.801","relation":{},"ISSN":["2160-8288"],"issn-type":[{"value":"2160-8288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,6]]}}}