Page 132 - Read Online
P. 132
Page 236 Musumeci et al. J Transl Genet Genom 2020;4:221-37 I https://doi.org/10.20517/jtgg.2020.22
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:E15072.
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