REFERENCES

1. Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35-9.

2. Schapira AHV. Mitochondrial disorders. Lancet 2012;379:1825-34.

3. DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol 2013;9:429-44.

4. McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010;9:829-40.

5. Hanna MG, Bhatia KP. Movement disorders and mitochondrial dysfunction. Curr Opin Neurol 1997;10:351-6.

6. Tranchant C, Anheim M. Movement disorders in mitochondrial diseases. Rev Neurol 2016;172:524-9.

7. Ghaoui R, Sue CM. Movement disorders in mitochondrial disease. J Neurol 2018;265:1230-40.

8. Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, et al. Clinical, genetic, and radiological features of extrapyramidal movement disorders in mitochondrial disease. JAMA Neurol 2016;73:668-74.

9. Moustris A, Edwards MJ, Bhatia KP. Movement disorders and mitochondrial disease. Handb Clin Neurol 2011;100:173-92.

10. Flønes IH, Tzoulis C. Movement disorders in mitochondrial disease: a clinicopathological correlation. Curr Opin Neurol 2018;31:472-83.

11. Truong DD, Harding AE, Scaravilli F, Smith SJ, Morgan-Hughes JA, et al. Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies. Mov Disord 1990;5:109-17.

12. Macaya A, Munell F, Burke RE, De Vivo DC. Disorders of movement in Leigh syndrome. Neuropediatrics 1993;24:60-7.

13. Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, et al. Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. J Inherit Metab Dis 2018;41:1275-83.

14. Schreglmann SR, Riederer F, Galovic M, Ganos C, Kägi G, et al. Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum. Mov Disord 2018;33:146-55.

15. Fahn S. Classification of movement disorders. Mov Disord 2011;26:947-57.

16. LeDoux MS. The genetics of dystonias. Adv Genet 2012;79:35-85.

17. Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, et al. Nomenclature of genetic movement disorders: recommendations of the international Parkinson and movement disorder society task force. Mov Disord 2016;31:436-57.

18. Chang X, Wu Y, Zhou J, Meng H, Zhang W, et al. A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Medicine 2020;99:e18634.

19. Naess K, Freyer C, Bruhn H, Wibom R, Malm G, et al. mtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. Biochim Biophys Acta 2009;1787:484-90.

20. Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, et al. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis 2014;9:52.

21. Zhang Y, Yang YL, Sun F, Cai X, Qian N, et al. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh like syndrome. J Inherit Metab Dis 2007;30:265.

22. Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, et al. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J Med Genet 2018;55:21-27.

23. Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, et al. High prevalence of SURF1 c.845_846delct mutation in Polish Leigh patients. Eur J Paediatr Neurol 2009;13:146-53.

24. Tolomeo D, Rubegni A, Severino M, Pochiero F, Bruno C, et al. Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: new case reports and expansion of the phenotype variability. J Neurol Sci 2019;399:69-75.

25. Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 2003;54:665-9.

26. Wang K, Takahashi Y, Gao ZL, Wang GX, Chen XW, et al. Mitochondrial ND3 as the novel causa tive gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 2009;10:337-45.

27. Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A 2004;124A:377-82.

28. Rahman S, Thorburn D. Nuclear gene-encoded leigh syndrome overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, editors. GeneReviews® [Internet]. Seattle: University of Washington; 2015. pp. 1993-2020.

29. Wedatilake Y, Brown RM, McFarland R, Yaplito-Lee J, Morris AA, et al. SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis 2013;8:96.

30. Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, et al. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood. Mol Genet Metab 2019;126:250-8.

31. Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130:862-74.

32. Desai R, Frazier AE, Durigon R, Patel H, Jones AW, et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 2017;140:1595-610.

33. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, et al. Progressive deafness-dystonia due to SERAC1 mutations: a study of 67 cases. Ann Neurol 2017;82:1004-15.

34. Heimer G, Kerätär JM, Riley LG, Balasubramaniam S, Eyal E, et al. MECR mutations cause childhood onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet 2016;99:1229-44.

35. Engl G, Florian S, Tranebjaerg L, Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet 2012;21:287-99.

36. Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, et al. A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome. Am J Med Genet A 2006;140:392-7.

37. Meire FM, Van Coster R, Cochaux P, Obermaier-Kusser B, Candaele C, et al. Neurological disorders in members of families with Leber’s hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 1995;16:119-26.

38. Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, et al. Leber’s ‘plus’: neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995;59:160-4.

39. Simon DK, Friedman J, Breakefield XO, Jankovic J, Brin MF, et al. A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics 2003;4:199-205.

40. Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA 1994;91:6206-10.

41. Mercuri MA, White H, Oliveira C. Vision loss and symmetric basal ganglia lesions in leber hereditary optic neuropathy. J Neuroophthalmol 2017;37:411-3.

42. Marie SK, Carvalho AA, Fonseca LF, Carvalho MS, Reed UC, et al. Kearns-Sayre syndrome ‘plus’. Classical clinical findings and dystonia. Arq Neuropsiquiatr 1999;57:1017-102.

43. Sudarsky L, Plotkin GM, Logigian EL, Johns DR. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord 1999;14:488-91.

44. Peng Y, Crumley R, Ringman JM. Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. Mov Disord 2003;18:716-8.

45. Hinnell C, Haider S, Delamont S, Clough C, Hadzic N, et al. Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations. Mov Disord 2012;27:162-3.

46. Morimoto N, Nagano I, Deguchi K, Murakami T, Fushimi S, et al. Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease. Neurology 2004;63:2451-452.

47. Nakagaki H, Furuya J, Santa Y, Nagano S, Araki E, et al. A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism. Rinsho Shinkeigaku 2005;45:502-5.

48. Kang JH, Kang SY, Choi JC, Lee SS, Kim JS. Chorea triggered by hyperglycemia in a maternally inherited diabetes and deafness (MIDD) patient with the A3243G mutation of mitochondrial DNA and basal ganglia calcification. J Neurol 2005;252:103-5.

49. Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, et al. 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;13:63.

50. Finsterer J. Parkinson syndrome as a manifestation of mitochondriopathy. Acta Neurol Scand 2002;105:384-9.

51. Finsterer J. Parkinson’s syndrome and Parkinson’s disease in mitochondrial disorders. Mov Disord 2011;26:784-91.

52. Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, et al. A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol 2000;48:730-6.

53. Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007;68:56-8.

54. Martikainen MH, Kytovuori L, Majamaa K. Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G > A mutation in mitochondrial DNA. Mitochondrion 2013;13:83-6.

55. De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parA 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 1999;45:130-3.

56. Rana M, de Coo I, Diaz F, Smeets H, Moraes CT. An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production. Ann Neurol 2000;48:774-81.

57. Simon DK, Pulst SM, Sutton JP, Browne SE, Beal MF, et al. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation. Neurology 1999;53:1787-93.

58. Vital C, Julien J, Martin-Negrier ML, Lagueny A, Ferrer X, et al. Parkinsonism in a patient with Leber hereditary optic neuropathy (LHON). Rev Neurol 2015;171:679-80.

59. Tzoulis C, Schwarzlmüller T, Biermann M, Haugarvoll K, Bindoff LA. Mitochondrial DNA homeostasis s essential for nigrostriatal integrity. Mitochondrion 2016;28:33-7.

60. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, et al. Parkinsonism, premature menopause and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004;364:875-82.

61. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007;64:998-1000.

62. Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, et al. Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 2015;78:21-38.

63. Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, et al. MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions. Arch Neurol 2012;69:1648-51.

64. Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, et al. POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Ann Clin Transl Neurol 2016;4:4-14.

65. Mancuso M, Filosto M, Oh SJ, DiMauro S. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 2004;61:1777-9.

66. Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, et al. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 2006;59:859-62.

67. Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, et al. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathol Appl Neurobiol 2009;35:120-4.

68. Invernizzi F, Varanese S, Thomas A, Carrara F, Onofrj M, et al. Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 2008;18:460-4.

69. Remes AM, Hinttala R, Kärppä M, Soini H, Takalo R, et al. Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. Parkinsonism Relat Disord 2008;14:652-4.

70. Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, et al. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 2007;64:553-7.

71. Synofzik M, Asmus F, Reimold M, Schöls L, Berg D. Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 2010;25:243-5.

72. Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, et al. Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 2008;18:465-70.

73. Sato K, Yabe I, Yaguchi H, Nakano F, Kunieda Y, et al. Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. J Neurol 2011;258:1327-32.

74. Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, et al. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat 2003;22:175-6.

75. Vandenberghe W, Van Laere K, Debruyne F, Van Broeckhoven C, Van Goethem G. Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Mov Disord 2009;24:308-9.

76. Kiferle L, Orsucci D, Mancuso M, Lo Gerfo A, Petrozzi L, et al. Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art. Neurosci Lett 2013;556:1-4.

77. Brandon BR, Diederich NJ, Soni M, Witte K, Weinhold M, et al. Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. J Neurol 2013;260:1931-3.

78. De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, et al. Parkinsonism and spastic paraplegia type 7: expanding the spectrum of mitochondrial Parkinsonism. Mov Disord 2019;34:1547-61.

79. Wilcox RA, Churchyard A, Dahl HH, Hutchinson WM, Kirbi DM, et al. Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions. Mov Disord 2007;22:1020-3.

80. Chalmers RM, Brockington M, Howard RS, Lecky BR, Morgan-Hughes JA, et al. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 1996;143:45.

81. Siciliano G, Mancuso M, Ceravolo R, Lombardi V, Iudice A, et al. Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports. J Neurol Neurosurg Psychiatry 2001;71:685-7.

82. Casali C, Bonifati V, Santorelli FM, Casari G, Fortini D, et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology 2001;56:802-5.

83. Lehmann Urban D, Motlagh Scholle L, Alt K, Ludolph AC, Rosenbohm A. Camptocormia as a novel phenotype in a heterozygous POLG2 mutation. Diagnostics 2020;10:E68.

84. Ma L, Mao W, Xu E, Cai Y, Wang C, et al. Novel POLG mutation in a patient with early-onset parkinsonism, progressive external ophthalmoplegia and optic atrophy. Int J Neurosci 2019;130:319-21.

85. Giannoccaro MP, La Morgia C, Rizzo G, Carelli V. Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson’s disease. Mov Disord 2017;32:346-63.

86. Jiang X, Jin T, Zhang H, Miao J, Zhao X, et al. Current progress of mitochondrial quality control pathways underlying the pathogenesis of Parkinson’s disease. Oxid Med Cell Longev 2019:4578462.

87. Wong YC, Luk K, Purtell K, Burke Nanni S, Stoessl AJ, et al. Neuronal vulnerability in Parkinson disease: Should the focus be on axons and synaptic terminals? Mov Disord 2019;34:1406-22.

88. Ammal Kaidery N, Thomas B. Current perspective of mitochondrial biology in Parkinson’s disease. Neurochem Int 2018;117:91-113.

89. Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord 2010;25:1538-49.

90. Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, et al. Myoclonus in mitochondrial disorders. Mov Disord 2014;29:722-8.

91. Chen RS, Huang CC, Lee CC, Wai YY, Hsi MS, et al. Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. Acta Neurol Scand 1993;87:494-8.

92. Brackmann F, Abicht A, Ahting U, Schroder R, Trollmann R. Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A > G) mutation. Eur J Pediatr 2012;171:859-62.

93. La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, et al. Rare mtDNAvariants in Leber hereditary o ptic neuropathy families with recurrence of myoclonus. Neurology 2008;70:762-77.

94. Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, et al. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C. J Neurol Neurosurg Psychiatry 2010;81:90-93.

95. Van Goethem G, Mercelis R, Lofgren A, Van Goethem G, Mercelis R, et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 2003;61:1811-3.

96. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008;29:E150-72.

97. Mignot C, Apartis E, Durr A, Marques Lourenço C, Charles P, et al. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet J Rare Dis 2013;8:173.

98. Zeviani M, Simonati A, Bindoff LA. Ataxia in mitochondrial disorders. Handb Clin Neurol 2012;103:359-72.

99. Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann Neurol 1999;45:377-83.

100. Lombes A, Mendell JR, Nakase H, Barohn RJ, Bonilla E, et al. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 1989;26:1231-60.

101. Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, et al. Phenotypic heterogeneity of the 8344A > G mtDNA “MERRF” mutation. Neurology 2013;80:2049-54.

102. DiMauro S, Hirano M. MELAS. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington; 1993.

103. Garone C, Hirano M, Quinzii C. CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 2012;1820:625-31.

104. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, et al. A mutation in para- hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006;78:345-9.

105. Musumeci O, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, et al. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001;56:849-855.

106. Lagier-Tourenne C, Tazir M, López LC, Quinzii CM, Assoum M, et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008;82:661-72.

107. Barca E, Musumeci O, Montagnese F, Marino S, Granata F, et al. Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. Clin Genet 2016;90:156-60.

108. Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, et al. Mutation in OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenence. Brain 2008;131:329-37.

109. Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, et al. A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Hum Mol Genet 2013;22:656-67.

110. Fratter C, Raman P, Alston CL, Blakely EL, Craig K, et al. RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology 2011;76:2032-4.

111. Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 2011;43:259-63.

112. Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-90.

113. Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations. Nat Rev Neurol 2019;15:40-52.

114. Li K, Jin R, Wu X. Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy. Eur J Med Genet 2020;63:103623.

115. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005;77:430-441.

116. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006;129:1685-92.

117. Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology 2015;84:1174-6.

118. Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, et al. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. J Inherit Metab Dis 2019;42:264-75.

119. Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, et al. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. J Neurol 2020;267:770-782.

120. Orsucci D, Ienco EC, Siciliano G, Mancuso M. Mitochondrial disorders and drugs: what every physician should know. Drugs Context 2019;8:212588.

121. Mancuso M, Galli R, Pizzanelli C, Filosto M, Siciliano G, et al. Antimyoclonic effect of levetiracetam in MERRF syndrome. J Neurol Sci 2006;243:97-9.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
Follow Us

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/

Portico

All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/