메뉴 건너뛰기




Volumn 14, Issue 3, 1999, Pages 488-491

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation

Author keywords

Dystonia; Genetics; MELAS; Mitochondria

Indexed keywords

ALPHA TOCOPHEROL; ASCORBIC ACID; BOTULINUM TOXIN; CLONAZEPAM; MITOCHONDRIAL DNA; NUCLEOTIDE; UBIDECARENONE;

EID: 0033452870     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(199905)14:3<488::AID-MDS1017>3.0.CO;2-4     Document Type: Article
Times cited : (41)

References (32)
  • 2
    • 0004879241 scopus 로고    scopus 로고
    • Oxidative phosphorylation diseases and movement disorders
    • Watts RL, Koller WC, eds. New York, NY: McGraw Hill
    • Shoffner JM. Oxidative phosphorylation diseases and movement disorders. In: Watts RL, Koller WC, eds. Movement Disorders: Neurologic Principles and Practice. New York, NY: McGraw Hill, 1997:51-71.
    • (1997) Movement Disorders: Neurologic Principles and Practice , pp. 51-71
    • Shoffner, J.M.1
  • 3
    • 0025944488 scopus 로고
    • Parkinson's disease and the electron transport chain
    • Boyson SJ. Parkinson's disease and the electron transport chain. Ann Neurol 1991;30:330-331.
    • (1991) Ann Neurol , vol.30 , pp. 330-331
    • Boyson, S.J.1
  • 4
    • 0031044805 scopus 로고    scopus 로고
    • Energy metabolism defects in Huntington's disease and effects of coenzyme Q10
    • Koroshetz WJ, Jenkins BG, Rosen BR, Beal MF. Energy metabolism defects in Huntington's disease and effects of coenzyme Q10. Ann Neurol 1997;41:160-165.
    • (1997) Ann Neurol , vol.41 , pp. 160-165
    • Koroshetz, W.J.1    Jenkins, B.G.2    Rosen, B.R.3    Beal, M.F.4
  • 6
    • 16944366666 scopus 로고    scopus 로고
    • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    • Ozelius L, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
    • (1997) Nat Genet , vol.17 , pp. 40-48
    • Ozelius, L.1    Hewett, J.W.2    Page, C.E.3
  • 8
  • 9
    • 0030868892 scopus 로고    scopus 로고
    • Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
    • Almasy L, Bressman SB, Raymond D, et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997;42:670-673.
    • (1997) Ann Neurol , vol.42 , pp. 670-673
    • Almasy, L.1    Bressman, S.B.2    Raymond, D.3
  • 10
  • 11
    • 0029197086 scopus 로고
    • Oxidative phosphorylation diseases and cerebellar ataxia
    • Shoffner JM, Kaufman A, Koontz D, et al. Oxidative phosphorylation diseases and cerebellar ataxia. Clin Neurosci 1995;3:43-53.
    • (1995) Clin Neurosci , vol.3 , pp. 43-53
    • Shoffner, J.M.1    Kaufman, A.2    Koontz, D.3
  • 12
    • 0016837513 scopus 로고
    • Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma
    • Ekbom K. Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. Acta Neurol Scand 1975;51:393-404.
    • (1975) Acta Neurol Scand , vol.51 , pp. 393-404
    • Ekbom, K.1
  • 13
    • 0029638664 scopus 로고
    • Mitochondrial DNA and disease
    • Johns DR. Mitochondrial DNA and disease. N Engl J Med 1995; 333:638-644.
    • (1995) N Engl J Med , vol.333 , pp. 638-644
    • Johns, D.R.1
  • 14
    • 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
  • 15
    • 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. Mov Disord 1994;9:125-138.
    • (1994) Mov Disord , vol.9 , pp. 125-138
    • Schapira, A.H.V.1
  • 16
    • 1842335744 scopus 로고    scopus 로고
    • Maternal inheritance in Parkinson's disease
    • Wooten GF, Currie LJ, Bennett JP, et al. Maternal inheritance in Parkinson's disease. Ann Neurol 1997;41:265-268.
    • (1997) Ann Neurol , vol.41 , pp. 265-268
    • Wooten, G.F.1    Currie, L.J.2    Bennett, J.P.3
  • 17
    • 0022527309 scopus 로고
    • Leber's disease and dystonia: A mitochondrial disease
    • Novotny EJ, Singh G, Wallace DC, et al. Leber's disease and dystonia: a mitochondrial disease. Neurology 1986;36:1053-1060.
    • (1986) Neurology , vol.36 , pp. 1053-1060
    • Novotny, E.J.1    Singh, G.2    Wallace, D.C.3
  • 18
    • 0015293286 scopus 로고
    • Subacute necrotizing encephalomyelopathy (Leigh's disease)
    • Pincus JH. Subacute necrotizing encephalomyelopathy (Leigh's disease). Dev Med Child Neurol 1972;14:87-101.
    • (1972) Dev Med Child Neurol , vol.14 , pp. 87-101
    • Pincus, J.H.1
  • 20
    • 0027451284 scopus 로고
    • The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
    • Santorelli FM, Shanske S, Macaya A, DeVivio DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol 1993;34:827-834.
    • (1993) Ann Neurol , vol.34 , pp. 827-834
    • Santorelli, F.M.1    Shanske, S.2    Macaya, A.3    DeVivio, D.C.4    DiMauro, S.5
  • 21
    • 0028342847 scopus 로고
    • 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
    • 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;91:6206-6210.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 22
    • 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 dysphonia
    • DeVries DD, Went LN, Bruyn GW, et al. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dysphonia. 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
  • 23
    • 0028801062 scopus 로고
    • Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations
    • Meire FM, Van Coster R, Cochaux P, Obermaier-Kusser B, Candaele C, Martin JJ. Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations. Ophthalmic Genet 1995;16:119-126.
    • (1995) Ophthalmic Genet , vol.16 , pp. 119-126
    • Meire, F.M.1    Van Coster, R.2    Cochaux, P.3    Obermaier-Kusser, B.4    Candaele, C.5    Martin, J.J.6
  • 25
    • 0026599415 scopus 로고
    • Dystonie segmentaire et encephalomyopathie mitochondriale
    • Donnet A, Guinot H, Pellissier JF, et al. Dystonie segmentaire et encephalomyopathie mitochondriale. Rev Neurol (Paris) 1992; 148:51-53.
    • (1992) Rev Neurol (Paris) , vol.148 , pp. 51-53
    • Donnet, A.1    Guinot, H.2    Pellissier, J.F.3
  • 27
    • 0026450789 scopus 로고
    • Electron transfer complex I defect in idiopathic dystonia
    • Benecke R, Strumper P, Weiss H. Electron transfer complex I defect in idiopathic dystonia. Ann Neurol 1992;32:683-686.
    • (1992) Ann Neurol , vol.32 , pp. 683-686
    • Benecke, R.1    Strumper, P.2    Weiss, H.3
  • 29
    • 0025666322 scopus 로고
    • A mutation in the tRNA (Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • 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.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 30
    • 0026708671 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
    • 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.
    • (1992) Neurology , vol.42 , pp. 545-550
    • Goto, Y.1    Horai, S.2    Matsuoka, T.3
  • 31
    • 0026681490 scopus 로고
    • MELAS: Clinical features, biochemistry, and molecular genetics
    • Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-398.
    • (1992) Ann Neurol , vol.31 , pp. 391-398
    • Ciafaloni, E.1    Ricci, E.2    Shanske, S.3
  • 32
    • 0027335882 scopus 로고
    • Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
    • Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord 1993;3:43-50.
    • (1993) Neuromuscul Disord , vol.3 , pp. 43-50
    • Moraes, C.T.1    Ciacci, F.2    Silvestri, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.