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Volumn 54, Issue 5, 2012, Pages 407-414

Peripheral neuropathy associated with mitochondrial disease in children

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; NUCLEAR PROTEIN;

EID: 84859500654     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04271.x     Document Type: Article
Times cited : (28)

References (95)
  • 1
    • 77955330843 scopus 로고    scopus 로고
    • A neurological perspective on mitochondrial disease
    • McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-40.
    • (2010) Lancet Neurol , vol.9 , pp. 829-840
    • McFarland, R.1    Taylor, R.W.2    Turnbull, D.M.3
  • 3
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003; 126: 1905-12.
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 4
    • 71349083138 scopus 로고    scopus 로고
    • Peripheral neuropathies due to mitochondrial disorders
    • Funalot B. Peripheral neuropathies due to mitochondrial disorders. Rev Neurol (Paris) 2009; 165: 1118-21.
    • (2009) Rev Neurol (Paris) , vol.165 , pp. 1118-1121
    • Funalot, B.1
  • 5
    • 79953311631 scopus 로고    scopus 로고
    • Inherited mitochondrial neuropathies
    • Finsterer J. Inherited mitochondrial neuropathies. J Neurol Sci 2011; 304: 9-16.
    • (2011) J Neurol Sci , vol.304 , pp. 9-16
    • Finsterer, J.1
  • 6
    • 0034674189 scopus 로고    scopus 로고
    • Aspects of neuropathy in mitochondrial diseases
    • Colomer J, Iturriaga C, Bestue M, et al. Aspects of neuropathy in mitochondrial diseases. Rev Neurol 2000; 30: 1117-21.
    • (2000) Rev Neurol , vol.30 , pp. 1117-1121
    • Colomer, J.1    Iturriaga, C.2    Bestue, M.3
  • 7
    • 79952423328 scopus 로고    scopus 로고
    • POLG1 manifestations in childhood
    • Isohanni P, Hakonen AH, Euro L, et al. POLG1 manifestations in childhood. Neurology 2011; 76: 811-15.
    • (2011) Neurology , vol.76 , pp. 811-815
    • Isohanni, P.1    Hakonen, A.H.2    Euro, L.3
  • 8
    • 0035092240 scopus 로고    scopus 로고
    • The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities
    • Darin N, Oldfors A, Moslemi A-R, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities. Ann Neurol 2001; 49: 377-83.
    • (2001) Ann Neurol , vol.49 , pp. 377-383
    • Darin, N.1    Oldfors, A.2    Moslemi, A.-R.3    Holme, E.4    Tulinius, M.5
  • 9
    • 20144388894 scopus 로고    scopus 로고
    • Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
    • Ferrari G, Lamantea E, Donati A, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA. Brain 2005; 128: 723-31.
    • (2005) Brain , vol.128 , pp. 723-731
    • Ferrari, G.1    Lamantea, E.2    Donati, A.3
  • 11
    • 37849003416 scopus 로고    scopus 로고
    • Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
    • Sarzi E, Goffart S, Serre V, et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007; 62: 579-87.
    • (2007) Ann Neurol , vol.62 , pp. 579-587
    • Sarzi, E.1    Goffart, S.2    Serre, V.3
  • 12
    • 0032569825 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features
    • Lönnqvist T, Paetau A, Nikali K, von Boguslawski K, Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. J Neurol Sci 1998; 161: 57-65.
    • (1998) J Neurol Sci , vol.161 , pp. 57-65
    • Lönnqvist, T.1    Paetau, A.2    Nikali, K.3    von Boguslawski, K.4    Pihko, H.5
  • 13
    • 0028218559 scopus 로고
    • Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA)
    • Koskinen T, Sainio K, Rapola J, Pihko H, Paetau A. Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 1994; 17: 509-15.
    • (1994) Muscle Nerve , vol.17 , pp. 509-515
    • Koskinen, T.1    Sainio, K.2    Rapola, J.3    Pihko, H.4    Paetau, A.5
  • 14
    • 67649409167 scopus 로고    scopus 로고
    • Recessive twinkle mutations cause severe epileptic encephalopathy
    • Lönnqvist T, Paetau A, Valanne L, Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 2009; 132: 1553-62.
    • (2009) Brain , vol.132 , pp. 1553-1562
    • Lönnqvist, T.1    Paetau, A.2    Valanne, L.3    Pihko, H.4
  • 15
    • 38949188752 scopus 로고    scopus 로고
    • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
    • Dimmock DP, Zhang Q, Dionisi-Vici C, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008; 29: 330-1.
    • (2008) Hum Mutat , vol.29 , pp. 330-331
    • Dimmock, D.P.1    Zhang, Q.2    Dionisi-Vici, C.3
  • 16
    • 0017192670 scopus 로고
    • Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children
    • Appenzeller O, Kornfeld M, Snyder R. Acromutilating, paralyzing neuropathy with corneal ulceration in Navajo children. Arch Neurol 1976; 33: 733-8.
    • (1976) Arch Neurol , vol.33 , pp. 733-738
    • Appenzeller, O.1    Kornfeld, M.2    Snyder, R.3
  • 17
    • 33748642169 scopus 로고    scopus 로고
    • Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
    • Karadimas CL, Vu TH, Holve SA, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006; 79: 544-8.
    • (2006) Am J Hum Genet , vol.79 , pp. 544-548
    • Karadimas, C.L.1    Vu, T.H.2    Holve, S.A.3
  • 18
    • 49449083740 scopus 로고    scopus 로고
    • Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations
    • Spinazzola A, Santer R, Akman OH, et al. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 2008; 65: 1108-13.
    • (2008) Arch Neurol , vol.65 , pp. 1108-1113
    • Spinazzola, A.1    Santer, R.2    Akman, O.H.3
  • 19
    • 43149121085 scopus 로고    scopus 로고
    • Disorders caused by deficiency of succinate-CoA ligase
    • Ostergaard E. Disorders caused by deficiency of succinate-CoA ligase. J Inherit Metab Dis 2008; 31: 226-9.
    • (2008) J Inherit Metab Dis , vol.31 , pp. 226-229
    • Ostergaard, E.1
  • 20
    • 33947165311 scopus 로고    scopus 로고
    • SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    • Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007; 130: 862-74.
    • (2007) Brain , vol.130 , pp. 862-874
    • Carrozzo, R.1    Dionisi-Vici, C.2    Steuerwald, U.3
  • 21
    • 70449123640 scopus 로고    scopus 로고
    • Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
    • Morava E, Steuerwald U, Carrozzo R, et al. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion 2009; 9: 438-42.
    • (2009) Mitochondrion , vol.9 , pp. 438-442
    • Morava, E.1    Steuerwald, U.2    Carrozzo, R.3
  • 22
    • 0038132933 scopus 로고    scopus 로고
    • Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement
    • den Boer MEJ, Dionisi-Vici C, Chakrapani A, van Thuijl AOJ, Wanders RJA, Wijburg FA. Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 2003; 142: 684-9.
    • (2003) J Pediatr , vol.142 , pp. 684-689
    • den Boer, M.E.J.1    Dionisi-Vici, C.2    Chakrapani, A.3    van Thuijl, A.O.J.4    Wanders, R.J.A.5    Wijburg, F.A.6
  • 23
    • 0347361626 scopus 로고    scopus 로고
    • Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein
    • Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I. Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 2004; 29: 66-72.
    • (2004) Muscle Nerve , vol.29 , pp. 66-72
    • Spiekerkoetter, U.1    Bennett, M.J.2    Ben-Zeev, B.3    Strauss, A.W.4    Tein, I.5
  • 24
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008; 39: 223-35.
    • (2008) Pediatr Neurol , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 25
    • 34248662674 scopus 로고    scopus 로고
    • An approach to MRI of metabolic disorders in children
    • Barkovich AJ. An approach to MRI of metabolic disorders in children. J Neuroradiol 2007; 34: 75-88.
    • (2007) J Neuroradiol , vol.34 , pp. 75-88
    • Barkovich, A.J.1
  • 27
    • 84862180122 scopus 로고    scopus 로고
    • Mitochondrial DNA-associated Leigh syndrome and NARP
    • Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Seattle, WA, USA: University of Washington, updated 2011)
    • Thorburn DR, Rahman S. Mitochondrial DNA-associated Leigh syndrome and NARP. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews. Seattle, WA, USA: University of Washington, 2003: (updated 2011).
    • (2003) Gene Reviews
    • Thorburn, D.R.1    Rahman, S.2
  • 28
    • 0036018880 scopus 로고    scopus 로고
    • A novel mutation in the SURF1 gene in a child with Leigh Disease, peripheral neuropathy, and cytochrome-c oxidase deficiency
    • Bruno C, Biancheri R, Garavaglia B, et al. A novel mutation in the SURF1 gene in a child with Leigh Disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 2002; 17: 233-6.
    • (2002) J Child Neurol , vol.17 , pp. 233-236
    • Bruno, C.1    Biancheri, R.2    Garavaglia, B.3
  • 29
    • 17444437997 scopus 로고    scopus 로고
    • A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
    • Santoro L, Carrozzo R, Malandrini A, et al. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscul Disord 2000; 10: 450-3.
    • (2000) Neuromuscul Disord , vol.10 , pp. 450-453
    • Santoro, L.1    Carrozzo, R.2    Malandrini, A.3
  • 30
    • 0031915011 scopus 로고    scopus 로고
    • Phenotypic differences between T→C and T→G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome
    • Fujii T, Hattori H, Higuchi Y, Tsuji M, Mitsuyoshi I. Phenotypic differences between T→C and T→G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome. Pediatr Neurol 1998; 18: 275-7.
    • (1998) Pediatr Neurol , vol.18 , pp. 275-277
    • Fujii, T.1    Hattori, H.2    Higuchi, Y.3    Tsuji, M.4    Mitsuyoshi, I.5
  • 31
    • 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: 428-33.
    • (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
  • 32
    • 33646895827 scopus 로고    scopus 로고
    • NARP-MILS syndrome caused by 8993T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study
    • Rojo A, Campos Y, Sánchez J, et al. NARP-MILS syndrome caused by 8993T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol (Berl) 2006; 111: 610-16.
    • (2006) Acta Neuropathol (Berl) , vol.111 , pp. 610-616
    • Rojo, A.1    Campos, Y.2    Sánchez, J.3
  • 33
    • 34147111890 scopus 로고    scopus 로고
    • Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA
    • Castagna AE, Addis J, McInnes RR, et al. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9, 185 of mitochondrial DNA. Am J Med Genet A 2007; 143A: 808-16.
    • (2007) Am J Med Genet A , vol.143 A , pp. 808-816
    • Castagna, A.E.1    Addis, J.2    McInnes, R.R.3
  • 34
    • 37249028126 scopus 로고    scopus 로고
    • Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation
    • Craig K, Elliott HR, Keers SM, et al. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J Med Genet 2007; 44: 797-9.
    • (2007) J Med Genet , vol.44 , pp. 797-799
    • Craig, K.1    Elliott, H.R.2    Keers, S.M.3
  • 36
    • 0023335809 scopus 로고
    • Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain
    • van Erven PM, Gabreels FJ, Ruitenbeek W, Renier WO, Lamers KJ, Sloof JL. Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain. J Neurol 1987; 234: 215-19.
    • (1987) J Neurol , vol.234 , pp. 215-219
    • van Erven, P.M.1    Gabreels, F.J.2    Ruitenbeek, W.3    Renier, W.O.4    Lamers, K.J.5    Sloof, J.L.6
  • 37
    • 44349099276 scopus 로고    scopus 로고
    • Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene
    • Childs AM, Hutchin T, Pysden K, et al. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics 2007; 38: 313-6.
    • (2007) Neuropediatrics , vol.38 , pp. 313-316
    • Childs, A.M.1    Hutchin, T.2    Pysden, K.3
  • 38
    • 84855353341 scopus 로고    scopus 로고
    • The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients
    • Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab 2012; 105: 34-43.
    • (2012) Mol Genet Metab , vol.105 , pp. 34-43
    • Patel, K.P.1    O'Brien, T.W.2    Subramony, S.H.3    Shuster, J.4    Stacpoole, P.W.5
  • 39
    • 0034194670 scopus 로고    scopus 로고
    • Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency
    • Di Rocco M, Doria Lamba L, Minniti G, Caruso U, Naito E. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. Eur J Paediatr Neurol 2000; 4: 115-7.
    • (2000) Eur J Paediatr Neurol , vol.4 , pp. 115-117
    • Di Rocco, M.1    Doria Lamba, L.2    Minniti, G.3    Caruso, U.4    Naito, E.5
  • 40
    • 0027467081 scopus 로고
    • E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy
    • Bonne G, Benelli C, De Meirleir L, et al. E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. Pediatr Res 1993; 33: 284-8.
    • (1993) Pediatr Res , vol.33 , pp. 284-288
    • Bonne, G.1    Benelli, C.2    De Meirleir, L.3
  • 41
    • 0028039843 scopus 로고
    • Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy
    • Chabrol B, Mancini J, Benelli C, Gire C, Munnich A. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. J Child Neurol 1994; 9: 52-5.
    • (1994) J Child Neurol , vol.9 , pp. 52-55
    • Chabrol, B.1    Mancini, J.2    Benelli, C.3    Gire, C.4    Munnich, A.5
  • 42
    • 0025278432 scopus 로고
    • Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy
    • Federico A, Dotti MT, Fabrizi GM, et al. Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy. Eur Neurol 1990; 30: 123-7.
    • (1990) Eur Neurol , vol.30 , pp. 123-127
    • Federico, A.1    Dotti, M.T.2    Fabrizi, G.M.3
  • 43
    • 0031006264 scopus 로고    scopus 로고
    • Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency
    • Marsac C, Benelli C, Desguerre I, et al. Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. Hum Genet 1997; 99: 785-92.
    • (1997) Hum Genet , vol.99 , pp. 785-792
    • Marsac, C.1    Benelli, C.2    Desguerre, I.3
  • 44
    • 46249119694 scopus 로고    scopus 로고
    • Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy
    • Sedel F, Challe G, Mayer JM, et al. Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. J Neurol Neurosurg Psychiatry 2008; 79: 846-7.
    • (2008) J Neurol Neurosurg Psychiatry , vol.79 , pp. 846-847
    • Sedel, F.1    Challe, G.2    Mayer, J.M.3
  • 45
    • 0041882240 scopus 로고    scopus 로고
    • Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation
    • Stickler DE, Carney PR, Valenstein ER. Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation. J Child Neurol 2003; 18: 574-6.
    • (2003) J Child Neurol , vol.18 , pp. 574-576
    • Stickler, D.E.1    Carney, P.R.2    Valenstein, E.R.3
  • 46
    • 79961111475 scopus 로고    scopus 로고
    • A novel homozygous mutation of DARS2 may cause a severe LBSL variant
    • Miyake N, Yamashita S, Kurosawa K, et al. A novel homozygous mutation of DARS2 may cause a severe LBSL variant. Clin Genet 2011; 80: 293-6.
    • (2011) Clin Genet , vol.80 , pp. 293-296
    • Miyake, N.1    Yamashita, S.2    Kurosawa, K.3
  • 47
    • 34047109743 scopus 로고    scopus 로고
    • Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    • Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39: 534-9.
    • (2007) Nat Genet , vol.39 , pp. 534-539
    • Scheper, G.C.1    van der Klok, T.2    van Andel, R.J.3
  • 48
    • 74549201114 scopus 로고    scopus 로고
    • DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
    • Isohanni P, Linnankivi T, Buzkova J, et al. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. J Med Genet 2010; 47: 66-70.
    • (2010) J Med Genet , vol.47 , pp. 66-70
    • Isohanni, P.1    Linnankivi, T.2    Buzkova, J.3
  • 49
    • 34547633642 scopus 로고    scopus 로고
    • Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients
    • Távora DGF, Nakayama M, Gama RL, Alvim TC, Portugal D, Comerlato EA. Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients. Arq Neuropsiquiatr 2007; 65: 506-11.
    • (2007) Arq Neuropsiquiatr , vol.65 , pp. 506-511
    • Távora, D.G.F.1    Nakayama, M.2    Gama, R.L.3    Alvim, T.C.4    Portugal, D.5    Comerlato, E.A.6
  • 50
    • 77957724879 scopus 로고    scopus 로고
    • Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy
    • McLaughlin HM, Sakaguchi R, Liu C, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 2010; 87: 560-6.
    • (2010) Am J Hum Genet , vol.87 , pp. 560-566
    • McLaughlin, H.M.1    Sakaguchi, R.2    Liu, C.3
  • 51
    • 0025900135 scopus 로고
    • Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease
    • In French)
    • Eymard B, Penicaud A, Leger JM, et al. Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease. Rev Neurol (Paris) 1991; 147: 508-12. (In French).
    • (1991) Rev Neurol (Paris) , vol.147 , pp. 508-512
    • Eymard, B.1    Penicaud, A.2    Leger, J.M.3
  • 52
    • 0031732194 scopus 로고    scopus 로고
    • Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy
    • Zanssen S, Molnar M, Buse G, Schroder JM. Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. Clin Neuropathol 1998; 17: 291-6.
    • (1998) Clin Neuropathol , vol.17 , pp. 291-296
    • Zanssen, S.1    Molnar, M.2    Buse, G.3    Schroder, J.M.4
  • 53
    • 0037158480 scopus 로고    scopus 로고
    • Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion
    • McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion. Am J Med Genet 2002; 111: 191-4.
    • (2002) Am J Med Genet , vol.111 , pp. 191-194
    • McDonald, D.G.1    McMenamin, J.B.2    Farrell, M.A.3    Droogan, O.4    Green, A.J.5
  • 54
    • 0028817857 scopus 로고
    • Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS
    • Molnar M, Neudecker S, Schroder JM. Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. Neuropathol Appl Neurobiol 1995; 21: 432-9.
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 432-439
    • Molnar, M.1    Neudecker, S.2    Schroder, J.M.3
  • 55
    • 0027158417 scopus 로고
    • Neuropathy associated with mitochondrial disorders
    • Schroder JM. Neuropathy associated with mitochondrial disorders. Brain Pathol 1993; 3: 177-90.
    • (1993) Brain Pathol , vol.3 , pp. 177-190
    • Schroder, J.M.1
  • 56
    • 0037320204 scopus 로고    scopus 로고
    • Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA
    • Kärppä M, Syrjälä P, Tolonen U, Majamaa K. Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA. J Neurol 2003; 250: 216-21.
    • (2003) J Neurol , vol.250 , pp. 216-221
    • Kärppä, M.1    Syrjälä, P.2    Tolonen, U.3    Majamaa, K.4
  • 57
    • 33646202306 scopus 로고    scopus 로고
    • Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    • Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006; 66: 324-30.
    • (2006) Neurology , vol.66 , pp. 324-330
    • Kaufmann, P.1    Engelstad, K.2    Wei, Y.3
  • 58
    • 31944434773 scopus 로고    scopus 로고
    • Peripheral neuropathy in genetic mitochondrial diseases
    • Stickler DE, Valenstein E, Neiberger RE, et al. Peripheral neuropathy in genetic mitochondrial diseases. Pediatr Neurol 2006; 34: 127-31.
    • (2006) Pediatr Neurol , vol.34 , pp. 127-131
    • Stickler, D.E.1    Valenstein, E.2    Neiberger, R.E.3
  • 59
    • 0036898006 scopus 로고    scopus 로고
    • Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature
    • Bouillot S, Martin-Negrier ML, Vital A, et al. Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. J Peripher Nerv Syst 2002; 7: 213-20.
    • (2002) J Peripher Nerv Syst , vol.7 , pp. 213-220
    • Bouillot, S.1    Martin-Negrier, M.L.2    Vital, A.3
  • 60
    • 63749113046 scopus 로고    scopus 로고
    • Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys
    • Erol I, Alehan F, Horvath R, Schneiderat P, Talim B. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. Neuromuscul Disord 2009; 19: 275-8.
    • (2009) Neuromuscul Disord , vol.19 , pp. 275-278
    • Erol, I.1    Alehan, F.2    Horvath, R.3    Schneiderat, P.4    Talim, B.5
  • 61
    • 57849140614 scopus 로고    scopus 로고
    • Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    • Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008; 29: E150-72.
    • (2008) Hum Mutat , vol.29
    • Wong, L.J.1    Naviaux, R.K.2    Brunetti-Pierri, N.3
  • 62
    • 0035914329 scopus 로고    scopus 로고
    • The fidelity of human DNA polymerase γ with and without exonucleolytic proofreading and the p55 accessory subunit
    • Longley MJ, Nguyen D, Kunkel TA, Copeland WC. The fidelity of human DNA polymerase γ with and without exonucleolytic proofreading and the p55 accessory subunit. J Biol Chem 2001; 276: 38555-62.
    • (2001) J Biol Chem , vol.276 , pp. 38555-38562
    • Longley, M.J.1    Nguyen, D.2    Kunkel, T.A.3    Copeland, W.C.4
  • 63
    • 33745685519 scopus 로고    scopus 로고
    • The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases
    • Tzoulis C, Engelsen BA, 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: 1685-92.
    • (2006) Brain , vol.129 , pp. 1685-1692
    • Tzoulis, C.1    Engelsen, B.A.2    Telstad, W.3
  • 64
    • 0037306061 scopus 로고    scopus 로고
    • Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
    • Van Goethem G, Martin JJ, 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: 133-42.
    • (2003) Neuromuscul Disord , vol.13 , pp. 133-142
    • Van Goethem, G.1    Martin, J.J.2    Dermaut, B.3
  • 65
    • 0347994917 scopus 로고    scopus 로고
    • Patient homozygous for a recessive POLG mutation presents with features of MERRF
    • Van Goethem G, Mercelis R, Lofgren A, et al. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 2003; 61: 1811-3.
    • (2003) Neurology , vol.61 , pp. 1811-1813
    • Van Goethem, G.1    Mercelis, R.2    Lofgren, A.3
  • 66
    • 33745713884 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations of the mitochondrial polymerase g gene
    • Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase g gene. Brain 2006; 129: 1674-84.
    • (2006) Brain , vol.129 , pp. 1674-1684
    • Horvath, R.1    Hudson, G.2    Ferrari, G.3
  • 67
    • 62149098339 scopus 로고    scopus 로고
    • Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
    • Stewart JD, Tennant S, Powell H, et al. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. J Med Genet 2009; 46: 209-14.
    • (2009) J Med Genet , vol.46 , pp. 209-214
    • Stewart, J.D.1    Tennant, S.2    Powell, H.3
  • 68
    • 0032231702 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
    • Hirano M, Garcia-de-Yebenes J, Jones AC, et al. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998; 63: 526-33.
    • (1998) Am J Hum Genet , vol.63 , pp. 526-533
    • Hirano, M.1    Garcia-de-Yebenes, J.2    Jones, A.C.3
  • 69
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in mngie, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in mngie, a human mitochondrial disorder. Science 1999; 283: 689-92.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 70
    • 0031681413 scopus 로고    scopus 로고
    • Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
    • Papadimitriou A, Comi G, Hadjigeorgiou G, et al. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 1998; 51: 1086-92.
    • (1998) Neurology , vol.51 , pp. 1086-1092
    • Papadimitriou, A.1    Comi, G.2    Hadjigeorgiou, G.3
  • 71
    • 0942297994 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes
    • Hirano M, Nishigaki Y, Marti R. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 2004; 10: 8-17.
    • (2004) Neurologist , vol.10 , pp. 8-17
    • Hirano, M.1    Nishigaki, Y.2    Marti, R.3
  • 72
    • 68549101959 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B
    • Shaibani A, Shchelochkov OA, Zhang S, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009; 66: 1028-32.
    • (2009) Arch Neurol , vol.66 , pp. 1028-1032
    • Shaibani, A.1    Shchelochkov, O.A.2    Zhang, S.3
  • 73
    • 1442328925 scopus 로고    scopus 로고
    • MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy
    • Bedlack RS, Vu T, Hammans S, et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 2004; 29: 364-8.
    • (2004) Muscle Nerve , vol.29 , pp. 364-368
    • Bedlack, R.S.1    Vu, T.2    Hammans, S.3
  • 74
    • 0025128307 scopus 로고
    • Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome
    • Simon LT, Horoupian DS, Dorfman LJ, et al. Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. Ann Neurol 1990; 28: 349-60.
    • (1990) Ann Neurol , vol.28 , pp. 349-360
    • Simon, L.T.1    Horoupian, D.S.2    Dorfman, L.J.3
  • 75
    • 0031692333 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy
    • Perez-Atayde AR, Fox V, Teitelbaum JE, et al. Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. Am J Surg Pathol 1998; 22: 1141-7.
    • (1998) Am J Surg Pathol , vol.22 , pp. 1141-1147
    • Perez-Atayde, A.R.1    Fox, V.2    Teitelbaum, J.E.3
  • 76
    • 33750306390 scopus 로고    scopus 로고
    • Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
    • Hirano M, Marti R, Casali C, et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006; 67: 1458-60.
    • (2006) Neurology , vol.67 , pp. 1458-1460
    • Hirano, M.1    Marti, R.2    Casali, C.3
  • 77
    • 79952533538 scopus 로고    scopus 로고
    • Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
    • Halter J, Schupbach WMM, Casali C, et al. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Bone Marrow Transplant 2011; 46: 330-7.
    • (2011) Bone Marrow Transplant , vol.46 , pp. 330-337
    • Halter, J.1    Schupbach, W.M.M.2    Casali, C.3
  • 80
    • 0029166941 scopus 로고
    • Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy
    • Nikoskelainen EK, Marttila RJ, Huoponen K, et al. Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 1995; 59: 160-4.
    • (1995) J Neurol Neurosurg Psychiatry , vol.59 , pp. 160-164
    • Nikoskelainen, E.K.1    Marttila, R.J.2    Huoponen, K.3
  • 81
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C, Votruba M, Pesch UEA, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-15.
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.A.3
  • 82
    • 77950244975 scopus 로고    scopus 로고
    • Multi-system neurological disease is common in patients with OPA1 mutations
    • Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010; 133: 771-86.
    • (2010) Brain , vol.133 , pp. 771-786
    • Yu-Wai-Man, P.1    Griffiths, P.G.2    Gorman, G.S.3
  • 83
    • 62549093116 scopus 로고    scopus 로고
    • The pathogenesis of Friedreich ataxia and the structure and function of frataxin
    • Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol 2009; 256: 9-17.
    • (2009) J Neurol , vol.256 , pp. 9-17
    • Pandolfo, M.1    Pastore, A.2
  • 84
    • 62549117369 scopus 로고    scopus 로고
    • Friedreich ataxia: the clinical picture
    • Pandolfo M. Friedreich ataxia: the clinical picture. J Neurol 2009; 256(Suppl. 1): 3-8.
    • (2009) J Neurol , vol.256 , Issue.SUPPL. 1 , pp. 3-8
    • Pandolfo, M.1
  • 85
    • 0019979781 scopus 로고
    • Friedreich's ataxia: early detection and progression of peripheral nerve abnormalities
    • Ouvrier RA, McLeod JG, Conchin TE. Friedreich's ataxia: early detection and progression of peripheral nerve abnormalities. J Neurol Sci 1982; 55: 137-45.
    • (1982) J Neurol Sci , vol.55 , pp. 137-145
    • Ouvrier, R.A.1    McLeod, J.G.2    Conchin, T.E.3
  • 86
    • 0033064265 scopus 로고    scopus 로고
    • Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
    • Santoro L, De Michele G, Perretti A, et al. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1999; 66: 93-6.
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 93-96
    • Santoro, L.1    De Michele, G.2    Perretti, A.3
  • 87
    • 68149103297 scopus 로고    scopus 로고
    • Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion
    • Song Z, Ghochani M, McCaffery JM, Frey TG, Chan DC. Mitofusins and OPA1 mediate sequential steps in mitochondrial membrane fusion. Mol Biol Cell 2009; 20: 3525-32.
    • (2009) Mol Biol Cell , vol.20 , pp. 3525-3532
    • Song, Z.1    Ghochani, M.2    McCaffery, J.M.3    Frey, T.G.4    Chan, D.C.5
  • 88
    • 0037455575 scopus 로고    scopus 로고
    • Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
    • Chen H, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol 2003; 160: 189-200.
    • (2003) J Cell Biol , vol.160 , pp. 189-200
    • Chen, H.1    Detmer, S.A.2    Ewald, A.J.3    Griffin, E.E.4    Fraser, S.E.5    Chan, D.C.6
  • 89
    • 2442589922 scopus 로고    scopus 로고
    • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    • Züchner S, Mersiyanova IV, Muglia M. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004; 36: 449-51.
    • (2004) Nat Genet , vol.36 , pp. 449-451
    • Züchner, S.1    Mersiyanova, I.V.2    Muglia, M.3
  • 90
    • 32044474896 scopus 로고    scopus 로고
    • Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
    • Züchner S, Jonghe PD, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006; 59: 276-81.
    • (2006) Ann Neurol , vol.59 , pp. 276-281
    • Züchner, S.1    Jonghe, P.D.2    Jordanova, A.3
  • 91
    • 58149241066 scopus 로고    scopus 로고
    • Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
    • Vallat J-M, Ouvrier RA, Pollard JD, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008; 67: 1097-102.
    • (2008) J Neuropathol Exp Neurol , vol.67 , pp. 1097-1102
    • Vallat, J.-M.1    Ouvrier, R.A.2    Pollard, J.D.3
  • 92
    • 0037168759 scopus 로고    scopus 로고
    • Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy
    • Nelis E, Erdem S, Van Den Bergh PY, et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 2002; 59: 1865-72.
    • (2002) Neurology , vol.59 , pp. 1865-1872
    • Nelis, E.1    Erdem, S.2    Van Den Bergh, P.Y.3
  • 93
    • 20244374986 scopus 로고    scopus 로고
    • Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect
    • Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005; 42: 358-65.
    • (2005) J Med Genet , vol.42 , pp. 358-365
    • Claramunt, R.1    Pedrola, L.2    Sevilla, T.3
  • 94
    • 64149125383 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)
    • Cassereau J, Chevrollier A, Gueguen N, et al. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2009; 10: 145-50.
    • (2009) Neurogenetics , vol.10 , pp. 145-150
    • Cassereau, J.1    Chevrollier, A.2    Gueguen, N.3
  • 95
    • 25444514731 scopus 로고    scopus 로고
    • Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
    • Niemann A, Ruegg M, La Padula V, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005; 170: 1067-78.
    • (2005) J Cell Biol , vol.170 , pp. 1067-1078
    • Niemann, A.1    Ruegg, M.2    La Padula, V.3    Schenone, A.4    Suter, U.5


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