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
   127   128   129   130   131   132   133   134   135   136   137