Movement disorders and mitochondrial disease

Handbook of Clinical Neurology

Volumn 100, Issue , 2011, Pages 173-192

  Moustris, Andreas ^a   Edwards, Mark J ^a   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BOOK; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HUMAN; MOTOR DYSFUNCTION;

HUMANS; MITOCHONDRIAL DISEASES; MOVEMENT DISORDERS;

EID: 79954538718     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52014-2.00010-0     Document Type: Book

References (227)

1. Aguirre L.A., del C I., Macaya A., 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, 140:392-397.
2. Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465.
3. Arenas J., Campos Y., Bornstein B., et al. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 1999, 52:377-382.
4. Austin S.A., Vriesendorp F.J., Thandroyen F.T., et al. Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation. Neurology 1998, 51:1447-1450.
5. Baloh R.H., Salavaggione E., Milbrandt J., et al. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007, 64:998-1000.
6. Benit P., Chretien D., Kadhom N., et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 2001, 68:1344-1352.
7. Benit P., Slama A., Cartault F., et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 2004, 41:14-17.
8. Benke P.J., Parker J.C., Lubs M.L., et al. X-linked Leigh's syndrome. Hum Genet 1982, 62:52-59.
9. Berkovic S.F., Carpenter S., Evans A., et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study. Brain 1989, 112:1231-1260.
10. Berkovic S.F., Shoubridge E.A., Andermann F., et al. Clinical spectrum of mitochondrial DNA mutation at base pair 8344. Lancet 1991, 338:457.
11. Betts J., Jaros E., Perry R.H., et al. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006, 32:359-373.
12. Binder J., Hofmann S., Kreisel S., et al. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. Brain 2003, 126:1814-1820.
13. Blakely E.L., Trip S.A., Swalwell H., et al. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Arch Neurol 2009, 66:399-402.
14. Bohm M., Pronicka E., Karczmarewicz E., et al. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res 2006, 59:21-26.
15. Bourgeron T., Rustin P., Chretien D., et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995, 11:144-149.
16. Brown M.D., Trounce I.A., Jun A.S., et al. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem 2000, 275:39831-39836.
17. Bruyn G.W., Went L.N. A sex-linked heredo-degenerative neurological disorder, associated with Leber's optic atrophy. I. Clinical studies. J Neurol Sci 1964, 54:59-80.
18. Bruyn G.W., Vielvoye G.J., Went L.N. Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. J Neurol Sci 1991, 103:195-202.
19. Bruyn G.W., Bots G.T., Went L.N., et al. Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. J Neurol Sci 1992, 113:55-61.
20. Carelli V., Valentino M.L., Liguori R., et al. Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. J Neurol Neurosurg Psychiatry 2001, 71:813-816.
21. Carrozzo R., Tessa A., Vazquez-Memije M.E., et al. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 2001, 56:687-690.
22. Carrozzo R., onisi-Vici C., Steuerwald U., et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007, 130:862-874.
23. Chae J.H., Lee J.S., Kim K.J., et al. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Pediatr Res 2007, 61:622-624.
24. Chae J.H., Lee J.S., Kim K.J., et al. Biochemical and genetic analysis of Leigh syndrome patients in Korea. Brain Dev 2008, 30:387-390.
25. Chalmers R.M., Harding A.E. A case-control study of Leber's hereditary optic neuropathy. Brain 1996, 119:1481-1486.
26. Champy P., Hoglinger G.U., Feger J., et al. Annonacin, a lipophilic inhibitor of mitochondrial complex I, induces nigral and striatal neurodegeneration in rats: possible relevance for atypical parkinsonism in Guadeloupe. J Neurochem 2004, 88:63-69.
27. Chinnery P.F., Zeviani M. 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 2008, 18:259-267.
28. Chinnery P.F., Howell N., Lightowlers R.N., et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997, 120:1713-1721.
29. Chinnery P.F., Johnson M.A., Wardell T.M., et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000, 48:188-193.
30. Chuang C.S., Lo M.C., Lee K.W., et al. Magnetic resonance spectroscopy study in basal ganglia of patients with myoclonic epilepsy with ragged-red fibers. Neurol India 2007, 55:385-387.
31. Ciafaloni E., Ricci E., Shanske S., et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992, 31:391-398.
32. Clayton D.A. Replication of animal mitochondrial DNA. Cell 1982, 28:693-705.
33. Coquet M., Degoul F., Vital A., et al. Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies. Neuromuscul Disord 1993, 3:593-597.
34. Davidzon G., Greene P., Mancuso M., et al. Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 2006, 59:859-862.
35. De Coo I., Renier W.O., Ruitenbeek W., et al. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 1999, 45:130-133.
36. Desguerre I., Pinton F., Nabbout R., et al. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics 2003, 34:265-269.
37. De Vries D.D., Went L.N., Bruyn G.W., et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 1996, 58:703-711.
38. DiMauro S., Schon E.A. Mitochondrial disorders in the nervous system. Annu Rev Neurosci 2008, 31:91-123.
39. DiMauro S., Hirano M., Kaufmann P., et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002, 89:217-229.
40. DiMauro S., Hirano M., Schon E.A. Approaches to the treatment of mitochondrial diseases. Muscle Nerve 2006, 34:265-283.
41. Eichhorn-Mulligan K., Cestari D.M. The genetics of Leber hereditary optic neuropathy - prototype of an inherited optic neuropathy with mitochondrial dysfunction. Semin Ophthalmol 2008, 23:27-37.
42. Elpeleg O., Miller C., Hershkovitz E., et al. Deficiency of the ADP-forming succinyl-coa synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005, 76:1081-1086.
43. Fabrizi G.M., Cardaioli E., Grieco G.S., et al. The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause a MERRF syndrome. J Neurol Neurosurg Psychiatry 1996, 61:47-51.
44. Fang W., Huang C.C., Chu N.S., et al. Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. Muscle Nerve 1994, 17:52-57.
45. Ferrari G., Lamantea E., Donati A., et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005, 128:723-731.
46. Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta Neurol Scand 2007, 116:1-14.
47. Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008, 39:223-235.
48. Folgero T., Torbergsen T., Oian P. The 3243 MELAS mutation in a pedigree with MERRF. Eur Neurol 1995, 35:168-171.
49. Fukuhara N. MERRF: a clinicopathological study. Relationships between myoclonus epilepsies and mitochondrial myopathies. Rev Neurol (Paris) 1991, 147:476-479.
50. Fukuhara N., Tokiguchi S., Shirakawa K., et al. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980, 47:117-133.
51. Funalot B., Reynier P., Vighetto A., et al. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 2002, 52:374-377.
52. Goldenberg P.C., Steiner R.D., Merkens L.S., et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology 2003, 60:865-868.
53. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
54. Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
55. Goto Y., Horai S., Matsuoka T., et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992, 42:545-550.
56. Graf W.D., Sumi S.M., Copass M.K., et al. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA. Ann Neurol 1993, 33:640-645.
57. Graf W.D., Marin-Garcia J., Gao H.G., et al. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol 2000, 15:357-361.
58. Gropman A., Chen T.J., Perng C.L., et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A 2004, 124A:377-382.
59. Haas R.H., Nasirian F., Nakano K., et al. Low platelet mitochondrial complex I and complex II/III activity in early untreated Parkinson's disease. Ann Neurol 1995, 37:714-722.
60. Hakonen A.H., Heiskanen S., Juvonen V., 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.
61. Hammans S.R., Sweeney M.G., Brockington M., et al. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991, 337:1311-1313.
62. Hammans S.R., Sweeney M.G., Brockington M., et al. The mitochondrial DNA transfer RNA(Lys)A→G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993, 116:617-632.
63. Hammans S.R., Sweeney M.G., Hanna M.G., et al. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain 1995, 118:721-734.
64. Hanna M.G., Bhatia K.P. Movement disorders and mitochondrial dysfunction. Curr Opin Neurol 1997, 10:351-356.
65. Harding A.E., Sweeney M.G., Miller D.H., et al. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992, 115:979-989.
66. Hess J.F., Parisi M.A., Bennett J.L., et al. Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1991, 351:236-239.
67. Hirano M., Ricci E., Koenigsberger M.R., et al. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 1992, 2:125-135.
68. Hoglinger G.U., Feger J., Prigent A., et al. Chronic systemic complex I inhibition induces a hypokinetic multisystem degeneration in rats. J Neurochem 2003, 84:491-502.
69. Holt I.J., Harding A.E., Petty R.K., et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990, 46:428-433.
70. Horvath R., Kley R.A., Lochmuller H., et al. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology 2007, 68:56-58.
71. Howell N., Bindoff L.A., McCullough D.A., et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991, 49:939-950.
72. Hudson G., Deschauer M., Busse K., et al. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology 2005, 64:371-373.
73. Hudson G., Keers S., Yu Wai M.P., et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet 2005, 77:1086-1091.
74. Hudson G., Schaefer A.M., Taylor R.W., et al. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Arch Neurol 2007, 64:553-557.
75. Hudson G., Tiangyou W., Stutt A., et al. No association between common POLG1 variants and sporadic idiopathic Parkinson's disease. Mov Disord 2009, 24:1092-1094.
76. Huoponen K., Vilkki J., Aula P., et al. A new mtdna mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991, 48:1147-1153.
77. Iizuka T., Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res 2005, 2:29-45.
78. Iizuka T., Sakai F., Ide T., et al. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS - implication of neurovascular cellular mechanism. J Neurol Sci 2007, 257:126-138.
79. Invernizzi F., Varanese S., Thomas A., et al. Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. Neuromuscul Disord 2008, 18:460-464.
80. Ito S., Shirai W., Asahina M., et al. Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. Am J Neuroradiol 2008, 29:392-395.
81. Jaksch M., Klopstock T., Kurlemann G., et al. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol 1998, 44:635-640.
82. Jensen P.K. Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome?. Am J Med Genet 1981, 9:55-60.
83. Jensen P.K., Reske-Nielsen E., Hein-Sorensen O., et al. The syndrome of opticoacoustic nerve atrophy with dementia. Am J Med Genet 1987, 28:517-518.
84. Jin H., May M., Tranebjaerg L., et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996, 14:177-180.
85. Jin H., Kendall E., Freeman T.C., et al. The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. Genomics 1999, 61:259-267.
86. Johns D.R., Neufeld M.J., Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 1992, 187:1551-1557.
87. Johns D.R., Smith K.H., Miller N.R. Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. Arch Ophthalmol 1992, 110:1577-1581.
88. Johns D.R., Heher K.L., Miller N.R., et al. Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. Arch Ophthalmol 1993, 111:495-498.
89. Jun A.S., Brown M.D., Wallace D.C. 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 U S A 1994, 91:6206-6210.
90. Jun A.S., Trounce I.A., Brown M.D., et al. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 1996, 16:771-777.
91. Kaguni L.S. DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem 2004, 73:293-320.
92. Kang J.H., Kang S.Y., Choi J.C., et al. 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, 252:103-105.
93. Kaufmann P., Shungu D.C., Sano M.C., et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004, 62:1297-1302.
94. Kim H.T., Edwards M.J., Tyson J., et al. Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene. Mov Disord 2007, 22:1328-1331.
95. King M.P., Koga Y., Davidson M., et al. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol 1992, 12:480-490.
96. Kirby D.M., Kahler S.G., Freckmann M.L., et al. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 2000, 48:102-104.
97. Kobayashi Y., Momoi M.Y., Tominaga K., et al. Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Genet 1991, 49:590-599.
98. Koehler C.M., Leuenberger D., Merchant S., et al. Human deafness dystonia syndrome is a mitochondrial disease. Proc Natl Acad Sci U S A 1999, 96:2141-2146.
99. Korhonen J.A., Gaspari M., Falkenberg M. TWINKLE Has 5' → 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J Biol Chem 2003, 278:48627-48632.
100. La Morgia C., Achilli A., Iommarini L., et al. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 2008, 70:762-770.
101. Larsson N.G., Andersen O., Holme E., et al. Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991, 30:701-708.
102. Leber T. Ueber hereditaere und congenital angelegte Sehnervenleiden. Graefes Arch Ophthal 1871, 17:249-291.
103. Lebon S., Chol M., Benit P., et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 2003, 40:896-899.
104. Lee H.F., Tsai C.R., Chi C.S., et al. Leigh syndrome: clinical and neuroimaging follow-up. Pediatr Neurol 2009, 40:88-93.
105. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951, 14:216-221.
106. Lim S.E., Longley M.J., Copeland W.C. The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. J Biol Chem 1999, 274:38197-38203.
107. Lister R., Hulett J.M., Lithgow T., et al. Protein import into mitochondria: origins and functions today (review). Mol Membr Biol 2005, 22:87-100.
108. Loeffen J., Smeitink J., Triepels R., et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998, 63:1598-1608.
109. Luoma P., Melberg A., Rinne J.O., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004, 364:875-882.
110. Luoma P.T., Eerola J., Ahola S., et al. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 2007, 69:1152-1159.
111. Macaya A., Munell F., Burke R.E., et al. Disorders of movement in Leigh syndrome. Neuropediatrics 1993, 24:60-67.
112. Mackey D.A., Oostra R.J., Rosenberg T., et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 1996, 59:481-485.
113. Malojcic B., Brinar V., Poser C., et al. An adult case of Leigh disease. Clin Neurol Neurosurg 2004, 106:237-240.
114. Mancuso M., Filosto M., Mootha V.K., et al. A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. Neurology 2004, 62:2119-2121.
115. Mancuso M., Filosto M., Oh S.J., et al. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch Neurol 2004, 61:1777-1779.
116. Mancuso M., Galli R., Pizzanelli C., et al. Antimyoclonic effect of levetiracetam in MERRF syndrome. J Neurol Sci 2006, 243:97-99.
117. Mancuso M., Petrozzi L., Filosto M., et al. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. Biochem Biophys Res Commun 2007, 354:1058-1060.
118. Mancuso M., Nesti C., Petrozzi L., et al. The mtDNA A8344G " MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population. Parkinsonism Relat Disord 2008, 14:381-382.
119. Mann V.M., Cooper J.M., Daniel S.E., et al. Complex I, iron, and ferritin in Parkinson's disease substantia nigra. Ann Neurol 1994, 36:876-881.
120. Margulis L. Genetic and evolutionary consequences of symbiosis. Exp Parasitol 1976, 39:277-349.
121. Matthews P.M., Marchington D.R., Squier M., et al. Molecular genetic characterization of an X-linked form of Leigh's syndrome. Ann Neurol 1993, 33:652-655.
122. McFarland R., Kirby D.M., Fowler K.J., et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 2004, 55:58-64.
123. McFarland R., Chinnery P.F., Blakely E.L., et al. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007, 69:911-916.
124. Meire F.M., Van C.R., Cochaux P., et al. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 1995, 16:119-126.
125. Melone M.A., Tessa A., Petrini S., et al. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Arch Neurol 2004, 61:269-272.
126. Merchant S.N., McKenna M.J., Nadol J.B., et al. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). Otol Neurotol 2001, 22:506-511.
127. Mohr J., Mageroy K. Sex-linked deafness of a possibly new type. Acta Genet Stat Med 1960, 10:54-62.
128. Moraes C.T., Ciacci F., Bonilla E., et al. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?. J Clin Invest 1993, 92:2906-2915.
129. Morimoto N., Nagano I., Deguchi K., et al. Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease. Neurology 2004, 63:2451-2452.
130. Morris A.A., Leonard J.V., Brown G.K., et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996, 40:25-30.
131. Naess K., Freyer C., Bruhn H., et al. mtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. Biochim Biophys Acta 2009, 1787:484-490.
132. Nagashima T., Kato H., Maguchi S., et al. A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA. Neuromuscul Disord 2001, 11:470-476.
133. Nakagaki H., Furuya J., Santa Y., et al. A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism. Rinsho Shinkeigaku 2005, 45:502-505.
134. Nakamura M., Nakano S., Goto Y., et al. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun 1995, 214:86-93.
135. Naviaux R.K., Nguyen K.V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004, 55:706-712.
136. Newman N.J. Hereditary optic neuropathies: from the mitochondria to the optic nerve. Am J Ophthalmol 2005, 140:517-523.
137. Newman N.J., Lott M.T., Wallace D.C. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 1991, 111:750-762.
138. Nicklas W.J., Youngster S.K., Kindt M.V., et al. MPTP, MPP+ and mitochondrial function. Life Sci 1987, 40:721-729.
139. Nikali K., Suomalainen A., Saharinen J., et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005, 14:2981-2990.
140. Nikoskelainen E.K., Marttila R.J., Huoponen K., et al. Leber's " plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995, 59:160-164.
141. Nikoskelainen E., Wanne O., Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1985, 1:696.
142. Nishigaki Y., Tadesse S., Bonilla E., et al. A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul Disord 2003, 13:334-340.
143. Noer A.S., Sudoyo H., Lertrit P., et al. A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. Am J Hum Genet 1991, 49:715-722.
144. Novotny E.J., Singh G., Wallace D.C., et al. Leber's disease and dystonia: a mitochondrial disease. Neurology 1986, 36:1053-1060.
145. Oostra R.J., Bolhuis P.A., Wijburg F.A., et al. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. J Med Genet 1994, 31:280-286.
146. Ostergaard E., Hansen F.J., Sorensen N., et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007, 130:853-861.
147. Ozawa M., Goto Y., Sakuta R., et al. The 8, 344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings. Neuromuscul Disord 1995, 5:483-488.
148. Ozawa M., Nishino I., Horai S., et al. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 1997, 20:271-278.
149. Pavlakis S.G., Phillips P.C., DiMauro S., et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984, 16:481-488.
150. Peng Y., Crumley R., Ringman J.M. Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. Mov Disord 2003, 18:716-718.
151. Petruzzella V., Vergari R., Puzziferri I., et al. A nonsense mutation in the NDUFS4 gene encoding the 18kda (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet 2001, 10:529-535.
152. Piekutowska-Abramczuk D., Popowska E., Pronicki M., et al. High prevalence of SURF1 c.845_846delct mutation in Polish Leigh patients. Eur J Paediatr Neurol 2009, 13:146-153.
153. Procaccio V., Wallace D.C. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology 2004, 62:1899-1901.
154. Rahman S., Blok R.B., Dahl H.H., et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996, 39:343-351.
155. Reeve A.K., Krishnan K.J., Turnbull D. Mitochondrial DNA mutations in disease, aging, and neurodegeneration. Ann N Y Acad Sci 2008, 1147:21-29.
156. Remes A.M., Hinttala R., Karppa M., et al. Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene. Parkinsonism Relat Disord 2008, 14:652-654.
157. Riordan-Eva P., Sanders M.D., Govan G.G., et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995, 118:319-337.
158. Roesch K., Curran S.P., Tranebjaerg L., et al. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2002, 11:477-486.
159. Roesch K., Hynds P.J., Varga R., et al. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. Hum Mol Genet 2004, 13:2101-2111.
160. Rosing H.S., Hopkins L.C., Wallace D.C., et al. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 1985, 17:228-237.
161. Rossmanith W., Raffelsberger T., Roka J., et al. The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. Ann Neurol 2003, 54:820-823.
162. Saitoh S., Kohsaka S., Mizukami S., et al. Cortical reflex myoclonus associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): a case report. Brain Dev 1992, 14:260-263.
163. Sakuta R., Nonaka I. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989, 25:594-601.
164. Sarzi E., Brown M.D., Lebon S., et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 2007, 143:33-41.
165. Sarzi E., Goffart S., Serre V., et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007, 62:579-587.
166. Schaefer A.M., McFarland R., Blakely E.L., et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008, 63:35-39.
167. Schapira A.H. Mitochondrial disease. Lancet 2006, 368:70-82.
168. Schapira A.H. Mitochondria in the aetiology and pathogenesis of Parkinson's disease. Lancet Neurol 2008, 7:97-109.
169. Schapira A.H., Cooper J.M., Dexter D., et al. Mitochondrial complex I deficiency in Parkinson's disease. Lancet 1989, 1:1269.
170. Schapira A.H., Mann V.M., Cooper J.M., et al. Anatomic and disease specificity of NADH coq1 reductase (complex I) deficiency in Parkinson's disease. J Neurochem 1990, 55:2142-2145.
171. Shahwan A., Farrell M., Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005, 4:239-248.
172. Shapira Y., Harel S., Russell A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977, 13:161-164.
173. Shih K.D., Yen T.C., Pang C.Y., et al. Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease. Biochem Biophys Res Commun 1991, 174:1109-1116.
174. Shoffner J.M., Lott M.T., Lezza A.M., et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990, 61:931-937.
175. Shoffner J.M., Fernhoff P.M., Krawiecki N.S., et al. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the atpase 6 point mutation. Neurology 1992, 42:2168-2174.
176. Shoffner J.M., Brown M.D., Stugard C., et al. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. Ann Neurol 1995, 38:163-169.
177. Silvestri G., Moraes C.T., Shanske S., et al. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992, 51:1213-1217.
178. Silvestri G., Ciafaloni E., Santorelli F.M., et al. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA (" MERRF mutation" ). Neurology 1993, 43:1200-1206.
179. Smeitink J., van den Heuvel L. Human mitochondrial complex I in health and disease. Am J Hum Genet 1999, 64:1505-1510.
180. Smith J.L., Hoyt W.F., Susac J.O. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol 1973, 90:349-354.
181. Solano A., Roig M., Vives-Bauza C., et al. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol 2003, 54:527-530.
182. So N., Berkovic S., Andermann F., et al. Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain 1989, 112:1261-1276.
183. Spelbrink J.N., Li F.Y., Tiranti V., et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001, 28:223-231.
184. Spinazzola A., Invernizzi F., Carrara F., et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009, 32:143-158.
185. Sproule D.M., Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008, 1142:133-158.
186. Spruijt L., Smeets H.J., Hendrickx A., et al. A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia. Arch Neurol 2007, 64:890-893.
187. Sudarsky L., Plotkin G.M., Logigian E.L., et al. Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation. Mov Disord 1999, 14:488-491.
188. Sue C.M., Bruno C., Andreu A.L., et al. Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr 1999, 134:696-700.
189. Sue C.M., Karadimas C., Checcarelli N., et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000, 47:589-595.
190. Swerdlow R.H., Wooten G.F. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann Neurol 2001, 50:537-540.
191. Taanman J.W., Schapira A.H. Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease. Neurosci Lett 2005, 376:56-59.
192. Tarnopolsky M.A., Baker S.K., Myint T., et al. Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation. Am J Med Genet A 2004, 124A:372-376.
193. Tatuch Y., Christodoulou J., Feigenbaum A., et al. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992, 50:852-858.
194. Taylor R.W., Turnbull D.M. Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005, 6:389-402.
195. Thompson P.D., Hammans S.R., Harding A.E. Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation. J Neurol 1994, 241:335-340.
196. Tiangyou W., Hudson G., Ghezzi D., et al. POLG1 in idiopathic Parkinson disease. Neurology 2006, 67:1698-1700.
197. Tiranti V., Hoertnagel K., Carrozzo R., et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998, 63:1609-1621.
198. Tiranti V., Carrara F., Confalonieri P., et al. A novel mutation (8342G→A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscul Disord 1999, 9:66-71.
199. Traff J., Holme E., Ekbom K., et al. Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. Acta Neurol Scand 1995, 92:394-397.
200. Tranebjaerg L., Schwartz C., Eriksen H., et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995, 32:257-263.
201. Tranebjaerg L., Jensen P.K., Van G.M., et al. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet 2001, 22:207-223.
202. Tsairis P., Engel W., Kark P. Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology (Minneapolis) 1973, 23:408.
203. Tsao C.Y., Herman G., Boue D.R., et al. Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review. J Child Neurol 2003, 18:62-64.
204. Tzoulis C., Engelsen B.A., Telstad W., et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006, 129:1685-1692.
205. Ugalde C., Triepels R.H., Coenen M.J., et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol 2003, 54:665-669.
206. Ujike H., Tanabe Y., Takehisa Y., et al. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. Arch Neurol 2001, 58:1004-1007.
207. Valente L., Piga D., Lamantea E., et al. Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 2009, 1787:491-501.
208. Van Coster R., Lombres A., De V., et al. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. J Neurol Sci 1991, 104:97-111.
209. Vandenberghe W., Van L.K., Debruyne F., et al. Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation. Mov Disord 2009, 24:308-309.
210. Van G.G., Dermaut B., Lofgren A., et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001, 28:211-212.
211. Van G.G., Martin J.J., Dermaut B., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 2003, 13:133-142.
212. Van G.G., Mercelis R., Lofgren A., et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 2003, 61:1811-1813.
213. Van G.G., Luoma P., Rantamaki M., et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004, 63:1251-1257.
214. Virgilio R., Ronchi D., Bordoni A., et al. Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study. J Neurol Sci 2009, 281:85-92.
215. Wallace D.C., Murdock D.G. Mitochondria and dystonia: the movement disorder connection?. Proc Natl Acad Sci U S A 1999, 96:1817-1819.
216. Wallace D.C., Singh G., Lott M.T., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
217. Wang K., Takahashi Y., Gao Z.L., et al. Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics 2009, 10:337-345.
218. Watanabe M., Mita S., Takita T., et al. Leber's hereditary optic neuropathy with dystonia in a Japanese family. J Neurol Sci 2006, 243:31-34.
219. Wiedemann F.R., Bartels C., Kirches E., et al. Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. Clin Neurol Neurosurg 2008, 110:859-863.
220. Winterthun S., Ferrari G., He L., et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005, 64:1204-1208.
221. Wong L.J., Naviaux R.K., Brunetti-Pierri N., et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008, 29:E150-E172.
222. Yen M.Y., Wang A.G., Wei Y.H. Leber's hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res 2006, 25:381-396.
223. Zeviani M. Mitochondrial disorders. Suppl Clin Neurophysiol 2004, 57:304-312.
224. Zeviani M., Amati P., Bresolin N., et al. Rapid detection of the A-G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1991, 48:203-211.
225. Zeviani M., Muntoni F., Savarese N., et al. A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1993, 1:80-87.
226. Zhang Y., Yang Y.L., Sun F., et al. Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome. J Inherit Metab Dis 2007, 30:265.
227. Zhu Z., Yao J., Johns T., et al. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet 1998, 20:337-343.