메뉴 건너뛰기




Volumn 49, Issue 1, 1997, Pages 239-245

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE DELETION; HUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY DYSFUNCTION;

EID: 0030753958     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.49.1.239     Document Type: Article
Times cited : (128)

References (39)
  • 1
    • 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
  • 2
    • 0014300876 scopus 로고
    • Ophthalmoplegia plus: The neurodegenerative disorders associated with progressive external ophthalmoplegia
    • Drachman DA. Ophthalmoplegia plus: the neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 1968;18:654-674.
    • (1968) Arch Neurol , vol.18 , pp. 654-674
    • Drachman, D.A.1
  • 3
    • 0016794164 scopus 로고
    • Chronic progressive external Ophthalmoplegia
    • Danta G, Hilton RC, Lynch PG. Chronic progressive external Ophthalmoplegia. Brain 1975;98:473-492.
    • (1975) Brain , vol.98 , pp. 473-492
    • Danta, G.1    Hilton, R.C.2    Lynch, P.G.3
  • 6
    • 0020613411 scopus 로고
    • Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency
    • Sasaki H, Kuzuhara S, Kanazawa I, Nakanishi T, Ogata T. Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. Neurology 1983;33:1288-1293.
    • (1983) Neurology , vol.33 , pp. 1288-1293
    • Sasaki, H.1    Kuzuhara, S.2    Kanazawa, I.3    Nakanishi, T.4    Ogata, T.5
  • 8
    • 0023003310 scopus 로고
    • The clinical features of mitochondrial myopathy
    • Petty RK, Harding AE, Morgan-Hughes JA. The clinical features of mitochondrial myopathy. Brain 1986;109:915-938.
    • (1986) Brain , vol.109 , pp. 915-938
    • Petty, R.K.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 11
    • 0025900135 scopus 로고
    • Clinical and electrophysiological study of the peripheral nerve in 28 cases of mitochondrial disease
    • Eymard B, Penicaud A, Leger JM, et al. Clinical and electrophysiological study of the peripheral nerve in 28 cases of mitochondrial disease. Rev Neurol 1991;147:508-512.
    • (1991) Rev Neurol , vol.147 , pp. 508-512
    • Eymard, B.1    Penicaud, A.2    Leger, J.M.3
  • 12
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
    • (1990) Am J Hum Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3    Morgan-Hughes, J.A.4
  • 13
    • 0023615870 scopus 로고
    • Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase: A new mitochondrial multisystem disorder
    • Bardosi A, Creutzfeldt W, DiMauro S, et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase: a new mitochondrial multisystem disorder. Acta Neuropathol 1987;74:248-258.
    • (1987) Acta Neuropathol , vol.74 , pp. 248-258
    • Bardosi, A.1    Creutzfeldt, W.2    DiMauro, S.3
  • 14
    • 0028301915 scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
    • Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-727.
    • (1994) Neurology , vol.44 , pp. 721-727
    • Hirano, M.1    Silvestri, G.2    Blake, D.M.3
  • 15
    • 0028306096 scopus 로고
    • Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: A mitochondrial multisystem disorder in search of a name
    • Uncini A, Servidei S, Silvestri G, et al. Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name. Muscle Nerve 1994;17:667-674.
    • (1994) Muscle Nerve , vol.17 , pp. 667-674
    • Uncini, A.1    Servidei, S.2    Silvestri, G.3
  • 16
    • 0026066855 scopus 로고
    • Mitochondrial abnormalities in human sural nerves: Fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature
    • Schroder JM, Sommer C. Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature. Acta Neuropathol 1991;82:471-482.
    • (1991) Acta Neuropathol , vol.82 , pp. 471-482
    • Schroder, J.M.1    Sommer, C.2
  • 17
    • 0024746638 scopus 로고
    • Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA
    • Johns DR, Hurko O. Preferential amplification and molecular characterization of junction sequences of a pathogenetic deletion in human mitochondrial DNA. Genomics 1989;5:623-628.
    • (1989) Genomics , vol.5 , pp. 623-628
    • Johns, D.R.1    Hurko, O.2
  • 18
    • 0024342089 scopus 로고
    • Directly repeated sequences associated with pathogenic mitochondrial DNA deletions
    • USA
    • Johns DR, Rutledge SL, Stine OC, Hurko O. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc Natl Acad Sci (USA) 1989;86:8059-8062.
    • (1989) Proc Natl Acad Sci , vol.86 , pp. 8059-8062
    • Johns, D.R.1    Rutledge, S.L.2    Stine, O.C.3    Hurko, O.4
  • 19
    • 0029887846 scopus 로고    scopus 로고
    • Autoimmune ataxic neuropathies (sensory ganglionopathies): Are glycolipids the responsible autoantigens?
    • Dalakas M, Quarles RH. Autoimmune ataxic neuropathies (sensory ganglionopathies): are glycolipids the responsible autoantigens? Ann Neurol 1996;39:419-422.
    • (1996) Ann Neurol , vol.39 , pp. 419-422
    • Dalakas, M.1    Quarles, R.H.2
  • 20
    • 0029886656 scopus 로고    scopus 로고
    • Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status
    • van Domburg PH, Gabreels-Festen AA, Gabreels FJ, et al. Mitochondrial cytopathy presenting as hereditary sensory 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.1    Gabreels-Festen, A.A.2    Gabreels, F.J.3
  • 21
    • 0026715879 scopus 로고
    • Nucleus-driven mutations of human mitochondrial DNA
    • Zeviani M. Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 1992;15:456-471.
    • (1992) J Inherit Metab Dis , vol.15 , pp. 456-471
    • Zeviani, M.1
  • 22
    • 0029978895 scopus 로고    scopus 로고
    • Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
    • Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stalberg E. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996;19:751-757.
    • (1996) Muscle Nerve , vol.19 , pp. 751-757
    • Melberg, A.1    Lundberg, P.O.2    Henriksson, K.G.3    Olsson, Y.4    Stalberg, E.5
  • 23
    • 0025648465 scopus 로고
    • Nerve-muscle involvement in a large family with mitochondrial cytopathy: Electrophysiological studies
    • Torbergsen T, Stalberg E, Bless JK. Nerve-muscle involvement in a large family with mitochondrial cytopathy: electrophysiological studies. Muscle Nerve 1991;14:35-41.
    • (1991) Muscle Nerve , vol.14 , pp. 35-41
    • Torbergsen, T.1    Stalberg, E.2    Bless, J.K.3
  • 24
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNa in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992;90:61-66.
    • (1992) J Clin Invest , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3
  • 25
    • 0026002054 scopus 로고
    • Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies
    • Servidei S, Zeviani M, Manfredi G, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991;41:1053-1059.
    • (1991) Neurology , vol.41 , pp. 1053-1059
    • Servidei, S.1    Zeviani, M.2    Manfredi, G.3
  • 26
    • 0026463567 scopus 로고
    • Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
    • Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 1992;340: 1319-1320.
    • (1992) Lancet , vol.340 , pp. 1319-1320
    • Suomalainen, A.1    Paetau, A.2    Leinonen, H.3    Majander, A.4    Peltonen, L.5    Somer, H.6
  • 27
    • 0028109484 scopus 로고
    • Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother
    • Casademont J, Barrientos A, Cardellach F, et al. Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. Hum Mol Genet 1994;3:1945-1949.
    • (1994) Hum Mol Genet , vol.3 , pp. 1945-1949
    • Casademont, J.1    Barrientos, A.2    Cardellach, F.3
  • 28
    • 0025828342 scopus 로고
    • Mitochondrial DNA deletions in inherited recurrent myoglobinuria
    • Ohno K, Tanaka M, Sahashi K, et al. Mitochondrial DNA deletions in inherited recurrent myoglobinuria. Ann Neurol 1991;29:364-369.
    • (1991) Ann Neurol , vol.29 , pp. 364-369
    • Ohno, K.1    Tanaka, M.2    Sahashi, K.3
  • 29
    • 0029996721 scopus 로고    scopus 로고
    • Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
    • Bohlega S, Tanji K, Santorelli FM, Hirano M, al-Jishi A, Di-Mauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996;46:1329-1334.
    • (1996) Neurology , vol.46 , pp. 1329-1334
    • Bohlega, S.1    Tanji, K.2    Santorelli, F.M.3    Hirano, M.4    Al-Jishi, A.5    Di-Mauro, S.6
  • 30
    • 0027478804 scopus 로고
    • Mitochondrial DNA deletions in inclusion body myositis
    • Oldfors A, Larsson NG, Lindberg C, Holme E. Mitochondrial DNA deletions in inclusion body myositis. Brain 1993;116: 325-336.
    • (1993) Brain , vol.116 , pp. 325-336
    • Oldfors, A.1    Larsson, N.G.2    Lindberg, C.3    Holme, E.4
  • 31
    • 8944243541 scopus 로고    scopus 로고
    • Multiple mitochondrial DNa deletions in sporadic inclusion body myositis: A study of 56 patients
    • Santorelli FM, Sciacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996;39:789-795.
    • (1996) Ann Neurol , vol.39 , pp. 789-795
    • Santorelli, F.M.1    Sciacco, M.2    Tanji, K.3
  • 33
    • 0028341580 scopus 로고
    • Multiple symmetric lipomatosis: Abnormalities in complex IV and multiple deletions in mitochondrial DNA
    • Klopstock T, Naumman M, Schalke B, et al. Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 1994;44:862-866.
    • (1994) Neurology , vol.44 , pp. 862-866
    • Klopstock, T.1    Naumman, M.2    Schalke, B.3
  • 34
    • 0027209460 scopus 로고
    • Multiple deletions of mitochondrial DNa in a patient with periodic attacks of paralysis
    • Prelle A, Moggio M, Checarelli N, et al. Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis. J Neurol Sci 1993;117:24-27.
    • (1993) J Neurol Sci , vol.117 , pp. 24-27
    • Prelle, A.1    Moggio, M.2    Checarelli, N.3
  • 35
    • 13344260008 scopus 로고    scopus 로고
    • A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome
    • Barrientos A, Volpini V, Casademont J, et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996;97:1570-1576.
    • (1996) J Clin Invest , vol.97 , pp. 1570-1576
    • Barrientos, A.1    Volpini, V.2    Casademont, J.3
  • 36
  • 37
    • 0025250482 scopus 로고
    • Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
    • Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47:904-914.
    • (1990) Am J Hum Genet , vol.47 , pp. 904-914
    • Zeviani, M.1    Bresolin, N.2    Gellera, C.3
  • 38
    • 0028833524 scopus 로고
    • An autosomal locus predisposing to deletions of mitochondrial DNA
    • Suomalainen A, Kaukonen J, Amati P, et al. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 1995;9:146-151.
    • (1995) Nat Genet , vol.9 , pp. 146-151
    • Suomalainen, A.1    Kaukonen, J.2    Amati, P.3
  • 39
    • 19144363053 scopus 로고    scopus 로고
    • An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p
    • Kaukonen JA, Amati P, Suomalainen A, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996;58:763-769.
    • (1996) Am J Hum Genet , vol.58 , pp. 763-769
    • Kaukonen, J.A.1    Amati, P.2    Suomalainen, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.