Have a personal or library account? Click to login
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism Cover

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Open Access
|Oct 2023

References

  1. 1Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, Mink JW, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord. 2010; 25(11): 153849. DOI: 10.1002/mds.23088
  2. 2Bologna M, Valls-Solè J, Kamble N, Pal PK, Conte A, Guerra A, et al. Dystonia, chorea, hemiballismus and other dyskinesias. Clin Neurophysiol. 2022; 140: 11025. DOI: 10.1016/j.clinph.2022.05.014
  3. 3Yanagisawa N. Functions and dysfunctions of the basal ganglia in humans. Proc Japan Acad Ser B Phys Biol Sci. 2018; 94(7): 275304. DOI: 10.2183/pjab.94.019
  4. 4Schreglmann SR, Riederer F, Galovic M, Ganos C, Kägi G, Waldvogel D, et al. Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. Mov Disord. 2018; 33(1): 14655. DOI: 10.1002/mds.27174
  5. 5Lee MS, Marsden CD. Movement disorders following lesions of the thalamus or subthalamic region. Mov Disord. 1994; 9(5): 493507. DOI: 10.1002/mds.870090502
  6. 6Lanska DJ. Early controversies over athetosis: I. clinical features, differentiation from other movement disorders, associated conditions, and pathology. Tremor and Other Hyperkinetic Movements. 2013; 3: 116. DOI: 10.5334/tohm.162
  7. 7Shannon KM. Hemiballismus. Curr Treat Options Neurol. 2005; 7(3): 203210. DOI: 10.1007/s11940-005-0013-3
  8. 8Lang AE. Persistent Hemiballismus with Lesions Outside the Subthalamic Nucleus. Can J Neurol Sci/J Can des Sci Neurol. 1985; 12(2): 1258. DOI: 10.1017/S0317167100046825
  9. 9Ortigoza-Escobar JD. A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders. Front Neurol. 2020; 11: 582160. DOI: 10.3389/fneur.2020.582160
  10. 10Mohammad SS, Paget SP, Dale RC. Current therapies and therapeutic decision making for childhood-onset movement disorders. Mov Disord. 2019; 34(5): 63756. DOI: 10.1002/mds.27661
  11. 11Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, et al. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis. 2020; 15(1): 48. DOI: 10.1186/s13023-020-01379-8
  12. 12Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 2017; 40(1): 2148. DOI: 10.1007/s10545-016-9991-4
  13. 13Tranchant C, Anheim M. Movement disorders in mitochondrial diseases. Rev Neurol (Paris). 2016; 172(8–9): 5249. DOI: 10.1016/j.neurol.2016.07.003
  14. 14Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, et al. PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression. Park Relat Disord. 2019; 61(September 2018): 17986. DOI: 10.1016/j.parkreldis.2018.10.013
  15. 15Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018; 5(2): 14955. DOI: 10.1002/mdc3.12573
  16. 16Mostile G, Barone R, Nicoletti A, Rizzo R, Martinelli D, Sturiale L, et al. Hyperkinetic movement disorders in congenital disorders of glycosylation. Eur J Neurol. 2019; 26(9): 122634. DOI: 10.1111/ene.14007
  17. 17Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A. Movement disorders in cerebrotendinous xanthomatosis. Park Relat Disord. 2019; 58(July 2018): 126. DOI: 10.1016/j.parkreldis.2018.07.006
  18. 18Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, et al. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017; 82(6): 100415. DOI: 10.1002/ana.25110
  19. 19Leach EL, Shevell M, Bowden K, Stockler-Ipsiroglu S, van Karnebeek CDM. Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review. Orphanet J Rare Dis. 2014; 9(Idd): 197. DOI: 10.1186/s13023-014-0197-2
  20. 20Kikuchi K, Hamano S, Mochizuki H. Pediatric Neurology Molybdenum Cofactor Deficiency Mimics Cerebral Palsy: Differentiating Factors for Diagnosis. Pediatr Neurol. 2012; 47(2): 1479. DOI: 10.1016/j.pediatrneurol.2012.04.013
  21. 21Ebrahimi-Fakhari D, Saffari A, Pearl PL. Childhood-onset hereditary spastic paraplegia and its treatable mimics. Mol Genet Metab. 2022; 137(4): 43644. DOI: 10.1016/j.ymgme.2021.06.006
  22. 22Moher D, Altman DG, Liberati A, Tetzlaff J. PRISMA statement. Epidemiology. 2011 Jan; 22(1): 128. DOI: 10.1097/EDE.0b013e3181fe7825
  23. 23Singer HS, Mink JW, Gilbert DL, Jankovic J. Classification of Movement Disorders. In: Singer HS, Mink JW, Gilbert DL, Jankovic J (eds.), Movement disorders in childhood. Elsevier; 2015. DOI: 10.1016/B978-0-12-411573-6.00003-6
  24. 24Ojwang PJ, Pegoraro RJ, Deppe WM, Sankar R, McKerrow N, Varughese L, Stoker AF, Goodman S, et al. Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report; 2001. p. 6825. DOI: 10.4314/eamj.v78i12.8941
  25. 25Greter J, Hagberg B, Steen G, Söderhjelm U. 3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy. Eur J Pediatr. 1978; 129(4): 2318. DOI: 10.1007/BF00441354
  26. 26Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA. A treatable new cause of chorea: Beta-ketothiolase deficiency. Mov Disord. 2013; 28(8): 10546. DOI: 10.1002/mds.25538
  27. 27Gascon GG, Ozand PT, Brismar J. Movement disorders in childhood organic acidurias Clinical, neuroimaging, and biochemical correlations. Brain Dev. 1994; 16(SUPPL.): 94103. DOI: 10.1016/0387-7604(94)90102-3
  28. 28Odièvre M-H, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, et al. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005; 25(3): 3234. DOI: 10.1002/humu.9319
  29. 29Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH. Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016; 119(1–2): 6874. DOI: 10.1016/j.ymgme.2016.07.007
  30. 30Sempere Á, Fons C, Arias Á, Rodríguez-Pombo P, Merinero B, Alcaide P, et al. Deficiencia cerebral de creatina: primeros pacientes españoles con mutaciones en el gen GAMT. Med Clin (Barc). 2009; 133(19): 7459. DOI: 10.1016/j.medcli.2009.06.065
  31. 31Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK. 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. J Med Case Rep. 2019; 13(1): 15. DOI: 10.1186/s13256-018-1936-0
  32. 32Yahya V, Spagnolo F, Di Maggio G, Leopizzi E, De Marco P, Fortunato F, et al. Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant. Park Relat Disord. 2022; 104: 857. DOI: 10.1016/j.parkreldis.2022.10.016
  33. 33Adler CH, Wrabetz L. Lesch-Nyhan variant: dystonia, ataxia, near-normal intelligence, and no self-mutilation. Mov Disord. 1996; 11(5): 5834. DOI: 10.1002/mds.870110519
  34. 34Tsai JD, Chen SM, Lin CH, Ku MS, Tsao TF, Sheu JN. Normal uricemia in Lesch-Nyhan syndrome and the association with pulmonary embolism in a young child – A case report and literature review. Pediatr Neonatol. 2014; 55(4): 3125. DOI: 10.1016/j.pedneo.2012.12.016
  35. 35Baba S, Saito T, Yamada Y, Takeshita E, Nomura N, Yamada K, et al. Novel mutation in HPRT1 causing a splicing error with multiple variations. Nucleosides, Nucleotides and Nucleic Acids. 2017; 36(1): 16. DOI: 10.1080/15257770.2016.1163381
  36. 36Leibel RL, Shih VE, Goodman SI, Bauman ML, McCabe ERB, Zwerdling RG, et al. Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis. Neurology. 1980; 30(11): 11638. DOI: 10.1212/WNL.30.11.1163
  37. 37Berman PH. Congenital Hyperuricemia. Arch Neurol. 1969; 20(1): 44. DOI: 10.1001/archneur.1969.00480070054006
  38. 38Kersnik Levart T. Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis. Pediatr Nephrol. 2007; 22(11): 19758. DOI: 10.1007/s00467-007-0566-3
  39. 39Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964; 36(4): 56170. DOI: 10.1016/0002-9343(64)90104-4
  40. 40Mitchell G, McInness RR. Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation. Can Med Assoc J. 1984; 130(10): 13234.
  41. 41Mizuno T, Segawa M, Kurumada T, Maruyama H, Onisawa J. Clinical and therapeutic aspects of the Lesch-Nyhan syndrome in Japanese children. Neuropadiatrie. 1970; 2(1): 3852. DOI: 10.1055/s-0028-1091839
  42. 42Sorensen LB. Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. J Clin Invest. 1970; 49(5): 96878. DOI: 10.1172/JCI106316
  43. 43Wood H, Fox RM, Vincent L, Reye C, Sullivanli WJO. The Lesch-Nyhan Syndrome: Report of Three Cases. Aust N Z J Med. 1972; 2(1): 5764. DOI: 10.1111/j.1445-5994.1972.tb03909.x
  44. 44Maydan G, Noyman I, Har-Zahav A, Neriah Z Ben, Pasmanik-Chor M, Yeheskel A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet. 2011; 48(6): 3839. DOI: 10.1136/jmg.2010.087114
  45. 45Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, et al. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet. 2014; 23(2): 41833. DOI: 10.1093/hmg/ddt434
  46. 46Macaya A, Munell F, Burke RE, De Vivo DC. Disorders of movement in Leigh syndrome. Neuropediatrics. 1993; 24(2): 607. DOI: 10.1055/s-2008-1071515
  47. 47Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, et al. A novel OPA3 mutation revealed by exome sequencing: An example of reverse phenotyping. JAMA Neurol. 2013; 70(6): 7837. DOI: 10.1001/jamaneurol.2013.1174
  48. 48Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, et al. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Eur J Paediatr Neurol. 2015; 19(6): 7336. DOI: 10.1016/j.ejpn.2015.06.006
  49. 49Neas K, Bennetts B, Carpenter K, White R, Kirk EP, Wilson M, et al. OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. J Inherit Metab Dis. 2005; 28(4): 52532. DOI: 10.1007/s10545-005-0525-8
  50. 50Yahalom G, Anikster Y, Huna-Baron R, Hoffmann C, Blumkin L, Lev D, et al. Costeff syndrome: clinical features and natural history. J Neurol. 2014; 261(12): 227582. DOI: 10.1007/s00415-014-7481-x
  51. 51Gauthier J, Meijer IA, Lessel D, Mencacci NE, Krainc D, Hempel M, et al. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018; 83(6): 108995. DOI: 10.1002/ana.25204
  52. 52Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol. 2014; 261(1): 1749. DOI: 10.1007/s00415-013-7159-9
  53. 53Shulman LM, Lang AE, Jankovic J, David NJ, Weiner WJ. What is it? Case 1, 1995: Psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction. Mov Disord. 1995; 10(3): 25762. DOI: 10.1002/mds.870100304
  54. 54Farooq MU, Balmer SV, DeRoos ST, Houtman KL, Chillag KL. A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings. Mov Disord. 2008; 23(10): 14878. DOI: 10.1002/mds.22145
  55. 55Kappler J, Watts RWE, Conzelmann E, Gibbs DA, Propping P, Gieselmann V. Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. Eur J Pediatr. 1991; 150(4): 28790. DOI: 10.1007/BF01955534
  56. 56Oates CE, Bosch EP, Hart MN. Movement disorders associated with chronic GM2 gangliosidosis. Case report and review of the literature. Eur Neurol. 1986; 25(2): 1549. DOI: 10.1159/000116100
  57. 57Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K. Glutaric aciduria in progressive choreo-athetosis. Clin Genet. 1978; 13(1): 7780. DOI: 10.1111/j.1399-0004.1978.tb04131.x
  58. 58Saini AG, Sankhyan N, Singhi P. Chorea in late-infantile neuronal ceroid lipofuscinosis: An atypical presentation. Pediatr Neurol. 2016; 60: 758. DOI: 10.1016/j.pediatrneurol.2016.02.015
  59. 59Nass R, Petito C, Stoner E, New M. Neuronal ceroid lipofuscinosis with hypergonadotropic hypogonadism. J Child Neurol. 1986; 1(2): 1424. DOI: 10.1177/088307388600100209
  60. 60Roze E, Vidailhet M, Blau N, Moller LB, Doummar D, de Villemeur TB, et al. Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Mov Disord. 2006; 21(2): 2636. DOI: 10.1002/mds.20699
  61. 61Leiros Da Costa MDD, Spitz M, Bacheschi LA, Leite CC, Lucato LT, Barbosa ER. Wilson’s disease: Two treatment modalities. Correlations to pretreatment and posttreatment brain MRI. Neuroradiology. 2009; 51(10): 62733. DOI: 10.1007/s00234-009-0536-5
  62. 62Ahn JH, Song J, Choi I, Kim JS, Cho JW, Youn J. Atypical brain MRI in neurological Wilson disease. Park Relat Disord. 2020; 78(July): 702. DOI: 10.1016/j.parkreldis.2020.07.018
  63. 63McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin gene mutations. Eur Neurol. 2008; 60(4): 2005. DOI: 10.1159/000148691
  64. 64Yonekawa M, Okabe T, Asamoto Y, Ohta M. 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. Eur Neurol. 1999; 42(3): 15762. DOI: 10.1159/000008091
  65. 65Kumar N, Rizek P, Sadikovic B, Adams PC, Jog M. Movement disorders associated with hemochromatosis. Can J Neurol Sci. 2016; 43(6): 8018. DOI: 10.1017/cjn.2016.286
  66. 66Russo N, Edwards M, Andrews T, O’Brien M, Bhatia KP. Hereditary haemochromatosis is unlikely to cause movement disorders: A critical review. J Neurol. 2004; 251(7): 84952. DOI: 10.1007/s00415-004-0445-9
  67. 67Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ. Aromatic l-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol. 2009; 13(2): 13540. DOI: 10.1016/j.ejpn.2008.03.008
  68. 68Gregersen N, Brandt NJ, Christensen E, Grøn I, Rasmussen K, Brandt S. Glutaric aciduria: Clinical and laboratory findings in two brothers. J Pediatr. 1977; 90(5): 7405. DOI: 10.1016/S0022-3476(77)81239-0
  69. 69Morales-Briceño H, Chang FCF, Wong C, Mallawaarachchi A, Wolfe N, Pellegrino Da Silva R, et al. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency. Neurology. 2019; 92(2): 947. DOI: 10.1212/WNL.0000000000006744
  70. 70Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl P, et al. Phenotype of GABA-transaminase deficiency. Neurology. 2017; 88(20): 19191924. DOI: 10.1212/WNL.0000000000003936
  71. 71Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatr Neurol. 2016; 58: 1135. DOI: 10.1016/j.pediatrneurol.2015.10.009
  72. 72Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D, et al. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006; 29(1): 2149. DOI: 10.1007/s10545-006-0123-4
  73. 73Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain. 2007; 130(1): 1109. DOI: 10.1093/brain/awl319
  74. 74Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013; 93(3): 48295. DOI: 10.1016/j.ajhg.2013.07.016
  75. 75Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders R, et al. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014; 23(18): 500916. DOI: 10.1093/hmg/ddu218
  76. 76Keegan CE, Martin DM, Quint DJ, Gorski JL. Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: Metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Pediatr. 2003; 162(4): 25963. DOI: 10.1007/s00431-002-1135-1
  77. 77McMillan HJ, Telegrafi A, Singleton A, Cho MT, Lelli D, Lynn FC, et al. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet J Rare Dis. 2018; 13(1): 110. DOI: 10.1186/s13023-018-0825-3
  78. 78Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, et al. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017; 140(4): 92839. DOI: 10.1093/brain/awx013
  79. 79Steiner RD, Sweetser DA, Rohrbaugh JR, Dowton SB, Toone JR, Applegarth DA. Nonketotic hyperglycinemia: Atypical clinical and biochemical manifestations. J Pediatr. 1996; 128(2): 2436. DOI: 10.1016/S0022-3476(96)70399-2
  80. 80François-Heude MC, Lebigot E, Roze E, Warde MTA, Cances C, Damaj L, et al. Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies. Eur J Neurol. 2022; 29(11): 322942. DOI: 10.1111/ene.15515
  81. 81Ktena YP, Paul SM, Hauser NS, Sloan JL, Gropman A, Manoli I, et al. Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). Am J Med Genet Part A. 2015; 167(9): 207584. DOI: 10.1002/ajmg.a.37127
  82. 82Dreifuss FE, Newcombe DS, Shapiro SL, Sheppard G. X-Linked Primary Hyperuricaemia (Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency Encephalopathy). J Ment Defic Res. 1968; 12(2): 1007. DOI: 10.1111/j.1365-2788.1968.tb00248.x
  83. 83Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L, et al. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. Genet Med. 2017; 19(2): 1608. DOI: 10.1038/gim.2016.75
  84. 84Kalita J, Kumar V, Misra UK, Kumar S. Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury. J Mol Neurosci. 2021; 71(2): 33846. DOI: 10.1007/s12031-020-01654-0
  85. 85Kalita J, Tripathi A, Jadhav M, Thakur RS, Patel DK. A Study of Dopaminergic Pathway in Neurologic Wilson Disease with Movement Disorder. Mol Neurobiol. 2023; 60(6): 3496506. DOI: 10.1007/s12035-023-03276-0
  86. 86Machado A, Chien HF, Deguti MM, Cançado E, Azevedo RS, Scaff M, et al. Neurological manifestations in Wilson’s disease: Report of 119 cases. Mov Disord. 2006; 21(12): 21926. DOI: 10.1002/mds.21170
  87. 87Mihaylova V, Todorov T, Jelev H, Kotsev I, Angelova L, Kosseva O, et al. Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. Neurologist. 2012; 18(4): 1849. DOI: 10.1097/NRL.0b013e31825cf3b7
  88. 88Prashanth LK, Taly AB, Sinha S, Arunodaya GR, Swamy HS. Wilson’s disease: Diagnostic errors and clinical implications. J Neurol Neurosurg Psychiatry. 2004; 75(6): 9079. DOI: 10.1136/jnnp.2003.026310
  89. 89Starosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, et al. Clinical Assessment of 31 Patients With Wilson’s Disease: Correlations With Structural Changes on Magnetic Resonance Imaging. Arch Neurol. 1987; 44(4): 36570. DOI: 10.1001/archneur.1987.00520160007005
  90. 90Brenton JN, Rust RS. Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene. Pediatr Neurol. 2014; 50(5): 5368. DOI: 10.1016/j.pediatrneurol.2014.01.018
  91. 91Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease: Description of 282 patients evaluated over 3 decades. Medicine (Baltimore). 2007; 86(2): 11221. DOI: 10.1097/MD.0b013e318045a00e
  92. 92Youn J, Kim JS, Kim HT, Lee JY, Lee PH, Ki CS, et al. Characteristics of neurological Wilson’s disease without Kayser-Fleischer ring. J Neurol Sci. 2012; 323(1–2): 1836. DOI: 10.1016/j.jns.2012.09.013
  93. 93Ranjan A, Kalita J, Kumar S, Bhoi SK, Misra UK. A study of MRI changes in Wilson disease and its correlation with clinical features and outcome. Clin Neurol Neurosurg. 2015; 138: 316. DOI: 10.1016/j.clineuro.2015.07.013
  94. 94Shah PA, Kuchhai FA. Galactosemia with chorea – An unusual presentation. Indian J Pediatr. 2009; 76(1): 978. DOI: 10.1007/s12098-009-0037-x
  95. 95Pérez-Dueñas B, Prior C, Ma Q, Fernández-Álvarez E, Setoain X, Artuch R, et al. Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. Arch Neurol. 2009; 66(11): 14104. DOI: 10.1001/archneurol.2009.236
  96. 96Shah SN, Johnson RC, Stone RK, Mahon-Haft H. Prevalence of partial cerebroside sulfate sulfatase (Arylsulfatase A) defect in adult psychiatric patients. Biol Psychiatry. 1985; 20(1): 507. DOI: 10.1016/0006-3223(85)90134-9
  97. 97Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, et al. Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington’s Disease Phenocopy. Front Neurol. 2022; 13(February): 817753. DOI: 10.3389/fneur.2022.817753
  98. 98Carod Artal FJ, Vargas AP, Christino Marinho PB, Fernandes Silva TV, Portugal D. Touretismo, hemibalismo y parkinsonismo juvenil: expandiendo el espectro clínico de la neurodegeneración asociada a deficiencia de pantotenato cinasa (síndrome de HallervordenSpatz). Rev Neurol. 2004; 38(04): 327. DOI: 10.33588/rn.3804.2003346
  99. 99van Egmond ME, Kuiper A, Elting JWJ, Brouwer OF, de Koning TJ, Tijssen MAJ. Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea. Mov Disord Clin Pract. 2015; 2(1): 613. DOI: 10.1002/mdc3.12136
  100. 100Shyambabu C, Sinha S, Taly AB, Vijayan J, Kovoor JME. Serum vitamin B12 deficiency and hyperhomocystinemia: A reversible cause of acute chorea, cerebellar ataxia in an adult with cerebral ischemia. J Neurol Sci. 2008; 273(1–2): 1524. DOI: 10.1016/j.jns.2008.06.034
  101. 101Atay M, Yetis H, Kurtcan S, Aralasmak A, Alkan A. Susceptibility Weighted Imaging Features of Nonketotic Hyperglycemia: Unusual Cause of Hemichorea-Hemiballismus. J Neuroimaging. 2015; 25(2): 31924. DOI: 10.1111/jon.12084
  102. 102Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, et al. Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients. J Inherit Metab Dis. 2018; 41(3): 33753. DOI: 10.1007/s10545-017-0131-6
  103. 103Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, et al. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Arch Dis Child. 2017; 102(11): 101929. DOI: 10.1136/archdischild-2017-312738
  104. 104Heringer J, Boy SPN, Ensenauer R, Assmann B, Zschocke J, Harting I, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type i. Ann Neurol. 2010; 68(5): 74352. DOI: 10.1002/ana.22095
  105. 105Socha P, Janczyk W, Dhawan A, Baumann U, D’Antiga L, Tanner S, et al. Wilson’s Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018; 66(2): 33444. DOI: 10.1097/MPG.0000000000001787
  106. 106Bindu PS, Nagappa M, Bharath RD, et al. Isolated SulfiteOxidase Deficiency. 2017 Sep 21. In: Adam MP, Mirzaa GM, Pagon RA, et al., (eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2023.
  107. 107Gregory A, Hayflick SJ. Pantothenate Kinase-Associated Neurodegeneration. 2002 Aug 13 [Updated 2017 Aug 3]. In: Adam MP, Mirzaa GM, Pagon RA, et al., (eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2023.
  108. 108Kurian MA. SLC6A3-Related Dopamine Transporter DeficiencySyndrome. 2017 Jul 27. In: Adam MP, Mirzaa GM, Pagon RA, et al., (eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2023.
  109. 109Heimer G, Gregory A, Hogarth P, et al. MECR-Related Neurologic Disorder. 2019 May 9. In: Adam MP, Mirzaa GM, Pagon RA, et al., (eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2023.
  110. 110Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Mirzaa GM, Pagon RA, et al., (eds.), GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2023.
DOI: https://doi.org/10.5334/tohm.801 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jul 22, 2023
Accepted on: Sep 27, 2023
Published on: Oct 6, 2023
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2023 Juan Darío Ortigoza-Escobar, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.