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Volumn 10, Issue 4, 1997, Pages 351-356

Movement disorders and mitochondrial dysfunction

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0030846427     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-199708000-00012     Document Type: Short Survey
Times cited : (32)

References (56)
  • 1
    • 0003093471 scopus 로고
    • Mitochondrial diseases
    • Edited by Engel AG, Franzini-Armstrong C. McGraw-Hill, New York
    • Morgan-Hughes JA: Mitochondrial diseases. In Myology, 2nd edn. Edited by Engel AG, Franzini-Armstrong C. McGraw-Hill, New York: 1994: 1610-1660.
    • (1994) Myology, 2nd Edn. , pp. 1610-1660
    • Morgan-Hughes, J.A.1
  • 2
    • 0000355861 scopus 로고
    • Oxidative phosphorylation diseases
    • Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill information services company
    • Shoffner JM Wallace DC: Oxidative phosphorylation diseases. In The Metabolic Basis of Inherited Disease. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill information services company; 1995:1535-1610.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 1535-1610
    • Shoffner, J.M.1    Wallace, D.C.2
  • 3
    • 0031044359 scopus 로고    scopus 로고
    • Mitochondrial function in Huntington's disease: Clues for pathogenesis and prospects for treatment
    • Schapira AHV: Mitochondrial function in Huntington's disease: clues for pathogenesis and prospects for treatment. Ann Neurol 1997, 41:141-142.
    • (1997) Ann Neurol , vol.41 , pp. 141-142
    • Schapira, A.H.V.1
  • 4
    • 0029586851 scopus 로고
    • Mitochondrial defects in basal ganglia diseases
    • Shoffner JM: Mitochondrial defects in basal ganglia diseases. Curr Opin Neurol 1995, 8:474-479.
    • (1995) Curr Opin Neurol , vol.8 , pp. 474-479
    • Shoffner, J.M.1
  • 5
    • 0345214789 scopus 로고
    • Electron transfer complex I defect in idiopathic dystonia
    • Benecke R, Strunper P, Weiss H: Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 1992, 9:642-649.
    • (1992) Ann Neurol , vol.9 , pp. 642-649
    • Benecke, R.1    Strunper, P.2    Weiss, H.3
  • 6
    • 0027942246 scopus 로고
    • Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalised dystonia
    • Reichmann H, Naumann M, Hauck S, Janetzky B: Respiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalised dystonia. Movement Disord 1994, 9:597-600.
    • (1994) Movement Disord , vol.9 , pp. 597-600
    • Reichmann, H.1    Naumann, M.2    Hauck, S.3    Janetzky, B.4
  • 7
    • 84889504566 scopus 로고    scopus 로고
    • Complex I activity in chromosome 9 linked (DYT1) and non-linked idiopathic torsion dystonia
    • Abstract P795
    • Warner TT, Marinho C, Cleeter M, Cooper JM, Schapira AHV: Complex I activity in chromosome 9 linked (DYT1) and non-linked idiopathic torsion dystonia [Abstract P795]. Movement Disord 1996, 11:211.
    • (1996) Movement Disord , vol.11 , pp. 211
    • Warner, T.T.1    Marinho, C.2    Cleeter, M.3    Cooper, J.M.4    Schapira, A.H.V.5
  • 8
    • 0028126528 scopus 로고
    • Dystonia as the major manifestation of Leigh's syndrome
    • Lera G, Bhatia K, Marsden CD: Dystonia as the major manifestation of Leigh's syndrome. Movement Disord 1994, 9:642-649.
    • (1994) Movement Disord , vol.9 , pp. 642-649
    • Lera, G.1    Bhatia, K.2    Marsden, C.D.3
  • 10
    • 0029985716 scopus 로고    scopus 로고
    • Leigh syndrome: Clinical features and biochemical and DNA abnormalities
    • Rahman S, Blok RB, Dahl HHM, Danks DM, Kirdy DM, Chow CW, Chrisodoulou J, Thorburn DR: Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996, 39:343-351. A detailed analysis of 67 Australian patients with definite or probable LS is provided. Biochemical or DNA defects were detected in 80% of the definite group. Twenty-nine patients had enzyme defects, complex I being the commonest. Only 11 patients had mtDNA point mutations. Twenty patients were noted to have involutary movements and 13 had dystonia. The movement disorders did not associate with any particular biochemical or genetic defect.
    • (1996) Ann Neurol , vol.39 , pp. 343-351
    • Rahman, S.1    Blok, R.B.2    Dahl, H.H.M.3    Danks, D.M.4    Kirdy, D.M.5    Chow, C.W.6    Chrisodoulou, J.7    Thorburn, D.R.8
  • 11
    • 8944244529 scopus 로고    scopus 로고
    • Deficiency of respiratory chain complex I is a common cause of Leigh disease
    • •] in 66 British patients with LS. Complex I deficiency was confirmed to be more common than previously noted, being second only to complex IV deficiency. MtDNA mutations were once again infrequent, being found in only two patients. Full clinical details on the seven patients with complex I deficiency were given and four had dystonia. It was stated that 50% of patients with complex I or IV defects had 'extrapyramidal signs'.
    • (1996) Ann Neurol , vol.40 , pp. 25-30
    • Morris, A.A.M.1    Leonard, J.V.2    Brown, G.K.3    Bidouki, S.K.4    Bindoff, L.A.5    Woodward, C.E.6    Harding, A.E.7    Lake, B.E.8    Harding, B.N.9    Farrell, M.A.10
  • 14
    • 0028810803 scopus 로고
    • Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
    • De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B: Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Paediatr Neurol 1995, 13:242-246.
    • (1995) Paediatr Neurol , vol.13 , pp. 242-246
    • De Meirleir, L.1    Seneca, S.2    Lissens, W.3    Schoentjes, E.4    Desprechins, B.5
  • 15
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • Thyagarajan D, Shanske S, Vazquez-Memije M, DeVivi D, DiMauro S: A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995, 38:468-472.
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    DeVivi, D.4    DiMauro, S.5
  • 18
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
    • Howell N, Kubacka I, Xu M, McCullogh DA: Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet 1991, 48:935-942.
    • (1991) Am J Hum Genet , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3    McCullogh, D.A.4
  • 19
    • 0025936841 scopus 로고
    • Leber's hereditary optic neuropathy and complex I deficiency in muscle
    • Larsson NG, Anderson O, Holme E, Oldfors A, Wahlstrum J: Leber's hereditary optic neuropathy and complex I deficiency in muscle. Ann Neurol 1991, 30:701-708.
    • (1991) Ann Neurol , vol.30 , pp. 701-708
    • Larsson, N.G.1    Anderson, O.2    Holme, E.3    Oldfors, A.4    Wahlstrum, J.5
  • 20
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide position 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • Jun AS, Brown MD, Wallace DC: A mitochondrial DNA mutation at nucleotide position 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.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 22
    • 0030060823 scopus 로고    scopus 로고
    • 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's hereditary optic neuropathy and dystonia
    • Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC: 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's hereditary optic neuropathy and dystonia. Mol Cell Biol 1996, 16:771-777. Using transmitochondrial cybrids direct evidence is provided that the 14459 mutation induces a decrease in complex I activity. This would suggest that the complex I defect is the cause of the dystonia in these cases.
    • (1996) Mol Cell Biol , vol.16 , pp. 771-777
    • Jun, A.S.1    Trounce, I.A.2    Brown, M.D.3    Shoffner, J.M.4    Wallace, D.C.5
  • 23
    • 0026472985 scopus 로고
    • Heriditary spastic dystonia with Leber's heriditary optic neuropathy: Neuropathological findings
    • Bruyn GW, Bots GTAM, Went LN, Klinkhammer PJJM: Heriditary spastic dystonia with Leber's heriditary optic neuropathy: neuropathological findings. J Neuro Sci 1992, 118:55-61.
    • (1992) J Neuro Sci , vol.118 , pp. 55-61
    • Bruyn, G.W.1    Bots, G.T.A.M.2    Went, L.N.3    Klinkhammer, P.J.J.M.4
  • 24
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • DeVries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RMW, Bolhuis PA, van Oost BA: 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.
    • (1996) Am J Hum Genet , vol.58 , pp. 703-711
    • DeVries, D.D.1    Went, L.N.2    Bruyn, G.W.3    Scholte, H.R.4    Hofstra, R.M.W.5    Bolhuis, P.A.6    Van Oost, B.A.7
  • 25
    • 0026718086 scopus 로고
    • Brain skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease
    • Mann VM, Cooper JM, Krige D, Daniel SE, Schapira AHV, Marsden CD: Brain skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease. Brain 1992, 115:333-342.
    • (1992) Brain , vol.115 , pp. 333-342
    • Mann, V.M.1    Cooper, J.M.2    Krige, D.3    Daniel, S.E.4    Schapira, A.H.V.5    Marsden, C.D.6
  • 27
    • 0029932989 scopus 로고    scopus 로고
    • Respiratory-chain enzyme activities in isolated mitochondria of lymphocytes from untreated Parkinson's disease patients
    • Martin MA, Molina JA, Jimenez-Jimenez FJ, Benito-Leon J, Orti-Parjera M, Campos Y, Arenas J and the Grupo Centro de Trastornos del Movimento: Respiratory-chain enzyme activities in isolated mitochondria of lymphocytes from untreated Parkinson's disease patients. Neurology 1996, 46:1343-1346.
    • (1996) Neurology , vol.46 , pp. 1343-1346
    • Martin, M.A.1    Molina, J.A.2    Jimenez-Jimenez, F.J.3    Benito-Leon, J.4    Orti-Parjera, M.5    Campos, Y.6    Arenas, J.7
  • 28
    • 0028274216 scopus 로고
    • Evidence for mitochondrial dysfunction in Parkinson's disease - A critical appraisal
    • Schapira AHV: Evidence for mitochondrial dysfunction in Parkinson's disease - a critical appraisal. Movement Disord 1994, 9:125-138.
    • (1994) Movement Disord , vol.9 , pp. 125-138
    • Schapira, A.H.V.1
  • 29
    • 0028068781 scopus 로고
    • Mitochondrial dysfunction in movement disorders
    • Schulz JB, Beal MF: Mitochondrial dysfunction in movement disorders. Curr Opin Neurol 1994, 7:333-339.
    • (1994) Curr Opin Neurol , vol.7 , pp. 333-339
    • Schulz, J.B.1    Beal, M.F.2
  • 30
    • 0030954171 scopus 로고    scopus 로고
    • Genes and parkinsonism
    • Wood NW: Genes and parkinsonism. J Neurol Neurosurg Psychiatry 1997, 4:305-309. A detailed appraisal of the possible involvement of nuclear and mitochondrial genetic factors in the aetiology of PD and other akinetic rigid syndromes is provided.
    • (1997) J Neurol Neurosurg Psychiatry , vol.4 , pp. 305-309
    • Wood, N.W.1
  • 32
  • 34
    • 0029908226 scopus 로고    scopus 로고
    • Origin and functional consequences of the complex I defect in Parkinson's disease
    • Swerdlow RH, Parks JK, Miller SW, Tuttle JB, Trimmer PA, Sheehan JS, Bennett JP, Davis RE, Parker WD: Origin and functional consequences of the complex I defect in Parkinson's disease. Ann Neurol 1996, 40:663-671. Using a transmitochondrial cybrid system donor mitochondria from patients with PD were shown to result in a stable 20% decrease in complex I activity compared with control individuals. This is direct evidence that mutations in mtDNA are the likely cause of this complex I defect. The next step is to sequence the entire mtDNA in these patients.
    • (1996) Ann Neurol , vol.40 , pp. 663-671
    • Swerdlow, R.H.1    Parks, J.K.2    Miller, S.W.3    Tuttle, J.B.4    Trimmer, P.A.5    Sheehan, J.S.6    Bennett, J.P.7    Davis, R.E.8    Parker, W.D.9
  • 36
    • 0028952052 scopus 로고
    • Presentation and clinical investigation of mitochondrial respiratory chain disease: A study of 51 patients
    • Jackson MJ, Schaefer JA, Johnson MA, Morris AAM, Turnball DM, Bindoff LA: Presentation and clinical investigation of mitochondrial respiratory chain disease: a study of 51 patients. Brain 1995, 118:339-357.
    • (1995) Brain , vol.118 , pp. 339-357
    • Jackson, M.J.1    Schaefer, J.A.2    Johnson, M.A.3    Morris, A.A.M.4    Turnball, D.M.5    Bindoff, L.A.6
  • 38
    • 0024798264 scopus 로고
    • Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
    • Holt IJ, Harding AE, Cooper JM, Schapira AHV, Toscano A, Clark JB, Morgan-Hughes JA: Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol 1989, 26:699-708.
    • (1989) Ann Neurol , vol.26 , pp. 699-708
    • Holt, I.J.1    Harding, A.E.2    Cooper, J.M.3    Schapira, A.H.V.4    Toscano, A.5    Clark, J.B.6    Morgan-Hughes, J.A.7
  • 39
    • 0002440530 scopus 로고    scopus 로고
    • Clinical features of mitochondrial myopathies and encephalopathies
    • Edited by Lane RJM. New York: Marcel Dekker Inc.
    • Hirano M, DiMauro S: Clinical features of mitochondrial myopathies and encephalopathies. In Handbook of Muscle Disease. Edited by Lane RJM. New York: Marcel Dekker Inc.; 1996:479-504.
    • (1996) Handbook of Muscle Disease , pp. 479-504
    • Hirano, M.1    DiMauro, S.2
  • 41
    • 0030297454 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy with multiple mitochondrial deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
    • Chalmers RM, Brockington M, Howard RS, Lecky BRF, Morgan-Hughes JA, Harding AE: Mitochondrial encephalopathy with multiple mitochondrial deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci 1996, 143:41-45.
    • (1996) J Neurol Sci , vol.143 , pp. 41-45
    • Chalmers, R.M.1    Brockington, M.2    Howard, R.S.3    Lecky, B.R.F.4    Morgan-Hughes, J.A.5    Harding, A.E.6
  • 44
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA Lys mutation
    • Shoffner JM, Lott MT, Lezza AMS, Siebel P, Ballinger SW, Wallace DC: Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA Lys mutation. Cell 1990, 61:931-937.
    • (1990) Cell , vol.61 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.S.3    Siebel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 46
    • 0029953124 scopus 로고    scopus 로고
    • A MERRFiPEO overlap syndrome associated with the mitochondrial DNA 3243 mutation
    • Verma A, Moraes CT, Shebert RT, Bradley WG: A MERRFiPEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology 1996, 46:1334-1336.
    • (1996) Neurology , vol.46 , pp. 1334-1336
    • Verma, A.1    Moraes, C.T.2    Shebert, R.T.3    Bradley, W.G.4
  • 47
    • 0026688649 scopus 로고
    • A new mtDNA mutation in the tRNA Lys gene associated with myoclonic epilepsy and ragged red fibres (MERRF)
    • Silvestri G, Moraes CT, Shanske S: A new mtDNA mutation in the tRNA Lys gene associated with myoclonic epilepsy and ragged red fibres (MERRF). Am J Hum Genet 1992, 51:1213-1217.
    • (1992) Am J Hum Genet , vol.51 , pp. 1213-1217
    • Silvestri, G.1    Moraes, C.T.2    Shanske, S.3
  • 48
    • 0028786210 scopus 로고
    • Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA (Lys)
    • Traff J, Holme E, Ekbom K, Nilsson BY: Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA (Lys). Acta Neurol Scand 1995, 92:394-397.
    • (1995) Acta Neurol Scand , vol.92 , pp. 394-397
    • Traff, J.1    Holme, E.2    Ekbom, K.3    Nilsson, B.Y.4
  • 50
    • 0029886656 scopus 로고    scopus 로고
    • Mitochondrial cytopathy presenting as hereditary neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
    • Van Domburg PHMF, Gabreels-Feston AAWM, Gabreels FJM, de Coo R, Ruitenbeek W, Wessling P, ter Laak H: Mitochondrial cytopathy presenting as hereditary neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. Brain 1996, 119:997-1010.
    • (1996) Brain , vol.119 , pp. 997-1010
    • Van Domburg, P.H.M.F.1    Gabreels-Feston, A.A.W.M.2    Gabreels, F.J.M.3    De Coo, R.4    Ruitenbeek, W.5    Wessling, P.6    Ter Laak, H.7
  • 51
    • 0028900387 scopus 로고
    • A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological and molecular genetic study
    • Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE: A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological and molecular genetic study. Ann Neurol 1995, 37:400-403.
    • (1995) Ann Neurol , vol.37 , pp. 400-403
    • Nelson, I.1    Hanna, M.G.2    Alsanjari, N.3    Scaravilli, F.4    Morgan-Hughes, J.A.5    Harding, A.E.6
  • 52
    • 0021883670 scopus 로고
    • Regional mitochondrial respiratory activity in Huntington's disease brain
    • Brennan WA, Bird ED, Aprille JR: Regional mitochondrial respiratory activity in Huntington's disease brain. J Neurochem 1985, 44:1948-1950.
    • (1985) J Neurochem , vol.44 , pp. 1948-1950
    • Brennan, W.A.1    Bird, E.D.2    Aprille, J.R.3
  • 54
    • 0028816071 scopus 로고
    • NMDA receptor involvement in toxicity to dopamine neurons in vitro caused by the succinate dehydrogenase inhibitor 3-nitropropionic acid
    • Zeevalk GD, Derr-Yellin E, Nicklas WJ: NMDA receptor involvement in toxicity to dopamine neurons in vitro caused by the succinate dehydrogenase inhibitor 3-nitropropionic acid. J Neurochem 1995, 64:455-456.
    • (1995) J Neurochem , vol.64 , pp. 455-456
    • Zeevalk, G.D.1    Derr-Yellin, E.2    Nicklas, W.J.3


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