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Chapter 2108143. Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three Greek patientswith a common ancestral mutation. Movement Disorders. 2010;25(8):1086-1090. doi:http://dx.doi.org/10.1002/mds.23002144. Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VS, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy. Mov Disord. Mar 2002;17(2):354-9. doi:10.1002/mds.10095145. Haugarvoll K, Bindoff LA. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. J Parkinsons Dis. 2011;1(1):119-22. doi:10.3233/jpd-2011-11006146. Lüdecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. Jul 1996;5(7):1023-8. doi:10.1093/hmg/5.7.1023147. Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. Ann Hum Genet. Jan 2000;64(Pt 1):25-31. doi:10.1017/s0003480000007922148. Burke EA, Frucht SJ, Thompson K, et al. Biallelic mutations in mitochondrial tryptophanyltRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. Clin Genet. Mar 2018;93(3):712-718. doi:10.1111/cge.13172149. Galosi S, Martinelli S, Cordeddu V, et al. Digenic inheritance of WARS2 and CHRNA6 mutations in infantile Parkinsonism. Movement Disorder. 2019;34(Supplement 2):S209. 2019 International Parkinson and Movement Disorder Society, MDS 2019. France. 150. Horn MA, Mikaelsen KB, Ferdinandusse S, et al. Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report. Clin Case Rep. Feb 2016;4(2):177-81. doi:10.1002/ccr3.434151. Serra Soler G, Gogorza Perez MS, Jimenez Portilla A, Pereg Macazaga V. Primary adrenal insufficiency due to X-linked adrenoleukodystrophy diagnosed in adulthood. Endocrinol Diabetes Nutr. Oct 2017;64(8):458-459. Insuficiencia suprarrenal debida a adrenoleucodistrofialigada al cromosoma X diagnosticada en la edad adulta. doi:10.1016/j.endinu.2017.07.001152. Gupta HV, Vengoechea J, Sahaya K, Virmani T. A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism. Parkinsonism Relat Disord. Dec 2015;21(12):1473-5. doi:10.1016/j.parkreldis.2015.10.001153. Meytin L. S-PR, Swan M. . Myoclonus and parkinsonism in 22q11.2 syndrome-expanding the phenotype. Mov Disord Clin Pract. 2020;(7(Supplement 1)):S83. doi:doi:10.1002/mdc3.12905154. Buongarzone G, Minafra B, Errichiello E, et al. 13.3.1. Movement disorders in a family carrying ATP7A variant. Movement Disorders. 2020;35(SUPPL 1):S89. MDS International Congress. Virtual. doi:http://dx.doi.org/10.1002/mds.28268155. Maric N, Luna J, Codina M, Armengol L. Severe scoliosis in the patient with a novel variant p. Pro237ArgfsTer7 in the WDR45 gene. Eur J Hum Genet. 2020;(28(SUPPL 1)):453-454. doi: doi:10.1038/s41431-020-00739-z156. Umehara F, Iwama K, Mizuguchi T, Matsumoto N. Basal ganglia calcification in a patient withstatic encephalopathy of childhood with neurodegeneration in adulthood/β-propeller proteinassociated neurodegeneration. Neurology and Clinical Neuroscience. 2020;8(5):332-334. doi:https://doi.org/10.1111/ncn3.12427157. Samanta D, Ramakrishnaiah R. Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration. J Pediatr Neurosci. Jul-Sep 2020;15(3):325-327. doi:10.4103/jpn.JPN_62_20158. Munoz-Delgado L, Jesus S, Macias-Garcia D, et al. Atypical parkinsonism due to a mutation in the SLC9A6 gene. . Mov Disord. 2020;(35(SUPPL 1)):S516-S517. doi:doi:10.1002/mds.28268159. Zadori D, Szalardy L, Maszlag-Torok R, et al. Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene. Frontiers in Neurology. 2020;11:767. doi:http://dx.doi.org/10.3389/fneur.2020.00767160. Jesús S, Hinarejos I, Carrillo F, et al. NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism. Neurol Genet. Feb 2021;7(1):e543. doi:10.1212/nxg.0000000000000543