메뉴 건너뛰기




Volumn 22, Issue 3, 2012, Pages

Leukoencephalopathies in mitochondrial disorders: Clinical and MRI findings

Author keywords

Central nervous system involvement; Leukodystrophy; Mitochondrial disorder; Mitochondriopathy

Indexed keywords

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ASSESSMENT; DIFFERENTIAL DIAGNOSIS; GLIA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INFANTILE ONSET SPINOCEREBELLAR ATAXIA; KEARNS SAYRE SYNDROME; LEBER HEREDITARY OPTIC NEUROPATHY; LEIGH DISEASE; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT WITH LACTACIDOSIS; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL DNA DISORDER; MNGIE SYNDROME; NERVE CELL NECROSIS; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PEARSON SYNDROME; PROGNOSIS; REVIEW; WHITE MATTER;

EID: 84863782373     PISSN: 10512284     EISSN: 15526569     Source Type: Journal    
DOI: 10.1111/j.1552-6569.2011.00693.x     Document Type: Review
Times cited : (13)

References (102)
  • 1
    • 33748377123 scopus 로고    scopus 로고
    • Central nervous system manifestations of mitochondrial disorders
    • Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006;114:217-238.
    • (2006) Acta Neurol Scand , vol.114 , pp. 217-238
    • Finsterer, J.1
  • 2
    • 0035154001 scopus 로고    scopus 로고
    • Phenotype variability in 130 adult patients with respiratory chain disorders
    • Finsterer J, Jarius C, Eichberger H. Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis 2001;24:560-576.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 560-576
    • Finsterer, J.1    Jarius, C.2    Eichberger, H.3
  • 3
    • 79851498310 scopus 로고    scopus 로고
    • Cranial magnetic resonance imaging findings in children with nonsyndromic mitochondrial diseases
    • Chi CS, Lee HF, Tsai CR, et al. Cranial magnetic resonance imaging findings in children with nonsyndromic mitochondrial diseases. Pediatr Neurol 2011;44:171-176.
    • (2011) Pediatr Neurol , vol.44 , pp. 171-176
    • Chi, C.S.1    Lee, H.F.2    Tsai, C.R.3
  • 4
    • 77951974494 scopus 로고    scopus 로고
    • Leukodystrophies with late disease onset: an update
    • Köhler W. Leukodystrophies with late disease onset: an update. Curr Opin Neurol 2010;23:234-241.
    • (2010) Curr Opin Neurol , vol.23 , pp. 234-241
    • Köhler, W.1
  • 5
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-221.
    • (1951) J Neurol Neurosurg Psychiatry , vol.14 , pp. 216-221
    • Leigh, D.1
  • 6
    • 48149098204 scopus 로고    scopus 로고
    • Classification of white matter lesions on magnetic resonance imaging in elderly persons
    • Kim KW, MacFall JR, Payne ME. Classification of white matter lesions on magnetic resonance imaging in elderly persons. Biol Psychiatry 2008;64:273-280.
    • (2008) Biol Psychiatry , vol.64 , pp. 273-280
    • Kim, K.W.1    MacFall, J.R.2    Payne, M.E.3
  • 7
    • 22844444188 scopus 로고    scopus 로고
    • Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS
    • Apostolova LG, White M, Moore SA, et al. Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS. Arch Neurol 2005;62:1154-1156.
    • (2005) Arch Neurol , vol.62 , pp. 1154-1156
    • Apostolova, L.G.1    White, M.2    Moore, S.A.3
  • 8
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases
    • Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60:280-289.
    • (1958) AMA Arch Ophthalmol , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, G.P.2
  • 9
    • 77955576599 scopus 로고    scopus 로고
    • MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review
    • Kaufman KR, Zuber N, Rueda-Lara MA, et al. MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioural disturbances: case analysis with literature review. Epilepsy Behav 2010;18:494-497.
    • (2010) Epilepsy Behav , vol.18 , pp. 494-497
    • Kaufman, K.R.1    Zuber, N.2    Rueda-Lara, M.A.3
  • 10
    • 54949142139 scopus 로고    scopus 로고
    • Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
    • Sproule DM, 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.
    • (2008) Ann N Y Acad Sci , vol.1142 , pp. 133-158
    • Sproule, D.M.1    Kaufmann, P.2
  • 11
    • 70349652130 scopus 로고    scopus 로고
    • Brain anomalies in maternally inherited diabetes and deafness syndrome
    • Fromont I, Nicoli F, Valéro R, et al. Brain anomalies in maternally inherited diabetes and deafness syndrome. J Neurol 2009;256:1696-1704.
    • (2009) J Neurol , vol.256 , pp. 1696-1704
    • Fromont, I.1    Nicoli, F.2    Valéro, R.3
  • 12
    • 0031267153 scopus 로고    scopus 로고
    • Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
    • Guo Y, Guo Z, Chen L, et al. Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. Chin Med J (Engl) 1997;110:851-855.
    • (1997) Chin Med J (Engl) , vol.110 , pp. 851-855
    • Guo, Y.1    Guo, Z.2    Chen, L.3
  • 13
    • 0029045601 scopus 로고
    • Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features
    • Huang CC, Wai YY, Chu NS, et al. Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. Eur Neurol 1995;35:199-205.
    • (1995) Eur Neurol , vol.35 , pp. 199-205
    • Huang, C.C.1    Wai, Y.Y.2    Chu, N.S.3
  • 14
    • 78649612716 scopus 로고    scopus 로고
    • Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G A mutation, and neuropathological findings in one autopsy case
    • Wang Z, Qi XK, Yao S, et al. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G A mutation, and neuropathological findings in one autopsy case. Neuropathology 2010;30:606-614.
    • (2010) Neuropathology , vol.30 , pp. 606-614
    • Wang, Z.1    Qi, X.K.2    Yao, S.3
  • 15
    • 0033966736 scopus 로고    scopus 로고
    • MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study
    • Tanahashi C, Nakayama A, Yoshida M, et al. MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study. Acta Neuropathol 2000;99:31-38.
    • (2000) Acta Neuropathol , vol.99 , pp. 31-38
    • Tanahashi, C.1    Nakayama, A.2    Yoshida, M.3
  • 16
    • 74949085121 scopus 로고    scopus 로고
    • MELAS with diffuse degeneration of the cerebral white matter: report of an autopsy case
    • Yokoyama T, Hasegawa K, Obama R, et al.MELAS with diffuse degeneration of the cerebral white matter: report of an autopsy case. Neuropathology 2010;30:56-60.
    • (2010) Neuropathology , vol.30 , pp. 56-60
    • Yokoyama, T.1    Hasegawa, K.2    Obama, R.3
  • 17
    • 0032941953 scopus 로고    scopus 로고
    • MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study
    • Tsuchiya K, Miyazaki H, Akabane H, et al. MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study. Acta Neuropathol 1999;97:520-524.
    • (1999) Acta Neuropathol , vol.97 , pp. 520-524
    • Tsuchiya, K.1    Miyazaki, H.2    Akabane, H.3
  • 18
    • 0026280317 scopus 로고
    • Mitochondrial myopathy and leukoencephalopathy in twins of different sexes
    • Pou Serradell A, Corominas J, Vilaseca MA, et al. Mitochondrial myopathy and leukoencephalopathy in twins of different sexes. Rev Neurol (Paris) 1991;147:497-500.
    • (1991) Rev Neurol (Paris) , vol.147 , pp. 497-500
    • Pou Serradell, A.1    Corominas, J.2    Vilaseca, M.A.3
  • 19
    • 0025180872 scopus 로고
    • CT, MRI, and autopsy findings in brain of a patient with MELAS
    • Fujii T, Okuno T, Ito M, et al. CT, MRI, and autopsy findings in brain of a patient with MELAS. Pediatr Neurol 1990;6:253-256.
    • (1990) Pediatr Neurol , vol.6 , pp. 253-256
    • Fujii, T.1    Okuno, T.2    Ito, M.3
  • 20
    • 0030152850 scopus 로고    scopus 로고
    • An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA
    • Terauchi A, Tamagawa K, Morimatsu Y, et al. An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. Brain Dev 1996;18:224-229.
    • (1996) Brain Dev , vol.18 , pp. 224-229
    • Terauchi, A.1    Tamagawa, K.2    Morimatsu, Y.3
  • 21
    • 73649127658 scopus 로고    scopus 로고
    • Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images
    • Tsujikawa T, Yoneda M, Shimizu Y, et al. Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images. Brain Dev 2010;32:143-149.
    • (2010) Brain Dev , vol.32 , pp. 143-149
    • Tsujikawa, T.1    Yoneda, M.2    Shimizu, Y.3
  • 22
    • 0032724863 scopus 로고    scopus 로고
    • Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS
    • Wilichowski E, Pouwels PJ, Frahm J, et al. Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics 1999;30:256-263.
    • (1999) Neuropediatrics , vol.30 , pp. 256-263
    • Wilichowski, E.1    Pouwels, P.J.2    Frahm, J.3
  • 23
    • 72649101562 scopus 로고    scopus 로고
    • Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation
    • Lindroos MM, Borra RJ, Parkkola R, et al. Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation. Brain 2009;132:3274-3284.
    • (2009) Brain , vol.132 , pp. 3274-3284
    • Lindroos, M.M.1    Borra, R.J.2    Parkkola, R.3
  • 24
    • 19244387448 scopus 로고    scopus 로고
    • Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome
    • Stratilová L, Zeman J, Houst'ková H, et al. Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome. Cas Lek Cesk 1999;138:401-405.
    • (1999) Cas Lek Cesk , vol.138 , pp. 401-405
    • Stratilová, L.1    Zeman, J.2    Houst'ková, H.3
  • 25
    • 79953741381 scopus 로고    scopus 로고
    • MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients
    • Lorenzoni PJ, Scola RH, Kay CS, et al. MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion 2011;11:528-532.
    • (2011) Mitochondrion , vol.11 , pp. 528-532
    • Lorenzoni, P.J.1    Scola, R.H.2    Kay, C.S.3
  • 26
    • 57549087036 scopus 로고    scopus 로고
    • Leber's optic neuropathy associated with disseminated white matter disease: a case report and review
    • Perez F, Anne O, Debruxelles S, et al. Leber's optic neuropathy associated with disseminated white matter disease: a case report and review. Clin Neurol Neurosurg 2009;111:83-86.
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 83-86
    • Perez, F.1    Anne, O.2    Debruxelles, S.3
  • 27
    • 0031148560 scopus 로고    scopus 로고
    • Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study
    • Cortelli P, Montagna P, Pierangeli G, et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study. J Neurol Sci 1997;148:25-31.
    • (1997) J Neurol Sci , vol.148 , pp. 25-31
    • Cortelli, P.1    Montagna, P.2    Pierangeli, G.3
  • 28
    • 79953040741 scopus 로고    scopus 로고
    • Bilateral progressive visual loss in an epileptic, mentally retarded boy
    • Guerriero S, Vetrugno M, Ciracì L, et al. Bilateral progressive visual loss in an epileptic, mentally retarded boy. Middle East Afr J Ophthalmol 2011;18:67-70.
    • (2011) Middle East Afr J Ophthalmol , vol.18 , pp. 67-70
    • Guerriero, S.1    Vetrugno, M.2    Ciracì, L.3
  • 29
    • 0036224544 scopus 로고    scopus 로고
    • White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation
    • Lev D, Yanoov-Sharav M, Watemberg N, et al. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol 2002;6:121-123.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 121-123
    • Lev, D.1    Yanoov-Sharav, M.2    Watemberg, N.3
  • 30
    • 11244291105 scopus 로고    scopus 로고
    • Neuropathology of white matter disease in Leber's hereditary optic neuropathy
    • Kovács GG, Höftberger R, Majtényi K, et al. Neuropathology of white matter disease in Leber's hereditary optic neuropathy. Brain 2005;128:35-41.
    • (2005) Brain , vol.128 , pp. 35-41
    • Kovács, G.G.1    Höftberger, R.2    Majtényi, K.3
  • 31
    • 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, 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.
    • (1995) Ophthalmic Genet , vol.16 , pp. 119-126
    • Meire, F.M.1    Van Coster, R.2    Cochaux, P.3
  • 32
    • 34247092379 scopus 로고    scopus 로고
    • White matter changes in Leber's hereditary optic neuropathy: MRI findings
    • Küker W, Weir A, Quaghebeur G, et al. White matter changes in Leber's hereditary optic neuropathy: MRI findings. Eur J Neurol 2007;14:591-593.
    • (2007) Eur J Neurol , vol.14 , pp. 591-593
    • Küker, W.1    Weir, A.2    Quaghebeur, G.3
  • 33
    • 0026782507 scopus 로고
    • Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation
    • Harding AE, Sweeney MG, Miller DH, 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.
    • (1992) Brain , vol.115 , pp. 979-989
    • Harding, A.E.1    Sweeney, M.G.2    Miller, D.H.3
  • 34
    • 78349306830 scopus 로고    scopus 로고
    • Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus?
    • Cawley N, Molloy A, Cassidy L, et al. Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding's, Leber's or Leber's Plus? Ir J Med Sci 2010;179:599-601.
    • (2010) Ir J Med Sci , vol.179 , pp. 599-601
    • Cawley, N.1    Molloy, A.2    Cassidy, L.3
  • 36
    • 75149152844 scopus 로고    scopus 로고
    • Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers
    • Ostojic J, Jancic J, Kozic D, et al. Brain white matter 1 H MRS in Leber optic neuropathy mutation carriers. Acta Neurol Belg 2009;109:305-309.
    • (2009) Acta Neurol Belg , vol.109 , pp. 305-309
    • Ostojic, J.1    Jancic, J.2    Kozic, D.3
  • 37
    • 78649615076 scopus 로고    scopus 로고
    • Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy
    • Barcella V, Rocca MA, Bianchi-Marzoli S, et al. Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy. Hum Brain Mapp 2010;31:1900-1906.
    • (2010) Hum Brain Mapp , vol.31 , pp. 1900-1906
    • Barcella, V.1    Rocca, M.A.2    Bianchi-Marzoli, S.3
  • 38
    • 0242584408 scopus 로고    scopus 로고
    • Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Bosbach S, Kornblum C, Schröder R, et al. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Brain 2003;126:1231-1240.
    • (2003) Brain , vol.126 , pp. 1231-1240
    • Bosbach, S.1    Kornblum, C.2    Schröder, R.3
  • 39
    • 0033551454 scopus 로고    scopus 로고
    • Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions
    • Moslemi AR, Melberg A, Holme E, et al. Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology 1999;53(1):79-84.
    • (1999) Neurology , vol.53 , Issue.1 , pp. 79-84
    • Moslemi, A.R.1    Melberg, A.2    Holme, E.3
  • 40
    • 66849097994 scopus 로고    scopus 로고
    • Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease
    • Van Hove JL, Cunningham V, Rice C, et al. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A 2009;149A:861-867.
    • (2009) Am J Med Genet A , vol.149 A , pp. 861-867
    • Van Hove, J.L.1    Cunningham, V.2    Rice, C.3
  • 41
    • 33748455870 scopus 로고    scopus 로고
    • Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain
    • Heidenreich JO, Klopstock T, Schirmer T, et al. Chronic progressive external ophthalmoplegia: MR spectroscopy and MR diffusion studies in the brain. AJR Am J Roentgenol 2006;187:820-824.
    • (2006) AJR Am J Roentgenol , vol.187 , pp. 820-824
    • Heidenreich, J.O.1    Klopstock, T.2    Schirmer, T.3
  • 42
    • 79956075131 scopus 로고    scopus 로고
    • Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000)
    • Mayer WJ, Remy M, Rudolph G. Kearns-Sayre syndrome: a mitochondrial disease (OMIM #530000). Ophthalmologe 2011;108:459-462.
    • (2011) Ophthalmologe , vol.108 , pp. 459-462
    • Mayer, W.J.1    Remy, M.2    Rudolph, G.3
  • 43
    • 84975461243 scopus 로고    scopus 로고
    • Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain
    • Kamata Y, Mashima Y, Yokoyama M, et al. Patient with Kearns-Sayre syndrome exhibiting abnormal magnetic resonance image of the brain. J Neuroophthalmol 1998;18:284-288.
    • (1998) J Neuroophthalmol , vol.18 , pp. 284-288
    • Kamata, Y.1    Mashima, Y.2    Yokoyama, M.3
  • 44
    • 0033435127 scopus 로고    scopus 로고
    • MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review
    • Chu BC, Terae S, Takahashi C, et al. MRI of the brain in the Kearns-Sayre syndrome: report of four cases and a review. Neuroradiology 1999;41:759-764.
    • (1999) Neuroradiology , vol.41 , pp. 759-764
    • Chu, B.C.1    Terae, S.2    Takahashi, C.3
  • 45
    • 33745527505 scopus 로고    scopus 로고
    • Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes
    • Hourani RG, Barada WM, Al-Kutoubi AM, et al. Atypical MRI findings in Kearns-Sayre syndrome: T2 radial stripes. Neuropediatrics 2006;37:110-113.
    • (2006) Neuropediatrics , vol.37 , pp. 110-113
    • Hourani, R.G.1    Barada, W.M.2    Al-Kutoubi, A.M.3
  • 46
    • 67349274354 scopus 로고    scopus 로고
    • Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms
    • Duning T, Deppe M, Keller S, Mohammadi S, et al. Diffusion tensor imaging in a case of Kearns-Sayre syndrome: striking brainstem involvement as a possible cause of oculomotor symptoms. J Neurol Sci 2009;281:110-112.
    • (2009) J Neurol Sci , vol.281 , pp. 110-112
    • Duning, T.1    Deppe, M.2    Keller, S.3    Mohammadi, S.4
  • 47
    • 0033563669 scopus 로고    scopus 로고
    • Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome
    • Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J Neurol Sci 1999;166:64-70.
    • (1999) J Neurol Sci , vol.166 , pp. 64-70
    • Tanji, K.1    DiMauro, S.2    Bonilla, E.3
  • 48
    • 32044475137 scopus 로고    scopus 로고
    • Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
    • Pineda M, Ormazabal A, López-Gallardo E, et al. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol 2006;59:394-398.
    • (2006) Ann Neurol , vol.59 , pp. 394-398
    • Pineda, M.1    Ormazabal, A.2    López-Gallardo, E.3
  • 49
    • 17144442529 scopus 로고    scopus 로고
    • Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome
    • Müller W, Mennel HD, Bewermeyer K, et al. Is there a final common pathway in mitochondrial encephalomyopathies? Considerations based on an autopsy case of Kearns-Sayre syndrome. Clin Neuropathol 2003;22:240-245.
    • (2003) Clin Neuropathol , vol.22 , pp. 240-245
    • Müller, W.1    Mennel, H.D.2    Bewermeyer, K.3
  • 50
    • 0026016757 scopus 로고
    • Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA
    • McKelvie PA, Morley JB, Byrne E, et al. Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA. J Neurol Sci 1991;102:51-60.
    • (1991) J Neurol Sci , vol.102 , pp. 51-60
    • McKelvie, P.A.1    Morley, J.B.2    Byrne, E.3
  • 51
    • 0032471372 scopus 로고    scopus 로고
    • Neuroradiologic findings in children with mitochondrial disorders
    • Valanne L, Ketonen L, Majander A, et al. Neuroradiologic findings in children with mitochondrial disorders. Am J Neuroradiol 1998;19:369-377.
    • (1998) Am J Neuroradiol , vol.19 , pp. 369-377
    • Valanne, L.1    Ketonen, L.2    Majander, A.3
  • 52
    • 34249690716 scopus 로고    scopus 로고
    • The neurological evolution of Pearson syndrome: case report and literature review
    • Lee HF, Lee HJ, Chi CS, et al. The neurological evolution of Pearson syndrome: case report and literature review. Eur J Paediatr Neurol 2007;11:208-214.
    • (2007) Eur J Paediatr Neurol , vol.11 , pp. 208-214
    • Lee, H.F.1    Lee, H.J.2    Chi, C.S.3
  • 53
    • 67651152870 scopus 로고    scopus 로고
    • Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
    • Roels F, Verloo P, Eyskens F, et al. Mitochondrial mosaics in the liver of 3 infants with mtDNA defects. BMC Clin Pathol 2009;9:4-12.
    • (2009) BMC Clin Pathol , vol.9 , Issue.4-12
    • Roels, F.1    Verloo, P.2    Eyskens, F.3
  • 55
    • 0028566729 scopus 로고
    • Pathogenic factors underlying the lesions in Leigh's disease: tissue responses to cellular energy deprivation and their clinico-pathological consequences
    • Cavanagh JB, Harding BN. Pathogenic factors underlying the lesions in Leigh's disease: tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 1994;117:1357-1376.
    • (1994) Brain , vol.117 , pp. 1357-1376
    • Cavanagh, J.B.1    Harding, B.N.2
  • 56
    • 33847064731 scopus 로고    scopus 로고
    • A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene
    • Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol 2007;49:65-67.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 65-67
    • Hung, P.C.1    Wang, H.S.2
  • 57
    • 81055158015 scopus 로고    scopus 로고
    • Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
    • Ostergaard E, Rodenburg RJ, van den Brand M, et al. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. J Med Genet 2011;48:737-740.
    • (2011) J Med Genet , vol.48 , pp. 737-740
    • Ostergaard, E.1    Rodenburg, R.J.2    van den Brand, M.3
  • 58
    • 0037929024 scopus 로고    scopus 로고
    • Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?
    • Rouco Axpe I, Garaizar Axpe C, Labairu Echevarría M, et al. Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome? Neurologia 2003;18:241-247.
    • (2003) Neurologia , vol.18 , pp. 241-247
    • Rouco Axpe, I.1    Garaizar Axpe, C.2    Labairu Echevarría, M.3
  • 59
    • 58749111796 scopus 로고    scopus 로고
    • Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course
    • Sobreira C, Marques W Jr, Pontes Neto OM, et al. Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course. J Neurol Sci 2009;278:132-134.
    • (2009) J Neurol Sci , vol.278 , pp. 132-134
    • Sobreira, C.1    Marques Jr., W.2    Pontes Neto, O.M.3
  • 60
    • 34250625246 scopus 로고    scopus 로고
    • Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study
    • Zhang Y, Sun F, Yang YL, et al. Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study. Zhongguo Dang Dai Er Ke Za Zhi 2007;9:216-219.
    • (2007) Zhongguo Dang Dai Er Ke Za Zhi , vol.9 , pp. 216-219
    • Zhang, Y.1    Sun, F.2    Yang, Y.L.3
  • 61
    • 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;283:689-692.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 62
    • 34247126028 scopus 로고    scopus 로고
    • Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation
    • Carod-Artal FJ, Herrero MD, Lara MC, et al. Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. Eur J Neurol 2007;14:581-585.
    • (2007) Eur J Neurol , vol.14 , pp. 581-585
    • Carod-Artal, F.J.1    Herrero, M.D.2    Lara, M.C.3
  • 63
    • 68949189533 scopus 로고    scopus 로고
    • A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy
    • Laforce R Jr, Valdmanis PN, Dupré N, et al. A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. Clin Neurol Neurosurg 2009;111:691-694.
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 691-694
    • Laforce Jr., R.1    Valdmanis, P.N.2    Dupré, N.3
  • 64
    • 0031681413 scopus 로고    scopus 로고
    • Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
    • Papadimitriou A, Comi GP, Hadjigeorgiou GM, et al. Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome. Neurology 1998;51:1086-1092.
    • (1998) Neurology , vol.51 , pp. 1086-1092
    • Papadimitriou, A.1    Comi, G.P.2    Hadjigeorgiou, G.M.3
  • 65
    • 33749597436 scopus 로고    scopus 로고
    • Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time
    • Gamez J, Minoves T. Abnormal brainstem auditory evoked responses in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): evidence of delayed central conduction time. Clin Neurophysiol 2006;117:2385-2391.
    • (2006) Clin Neurophysiol , vol.117 , pp. 2385-2391
    • Gamez, J.1    Minoves, T.2
  • 66
    • 33750386270 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    • Honzík T, Tesarová M, Hansíková H, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Cas Lek Cesk 2006;145:665-670.
    • (2006) Cas Lek Cesk , vol.145 , pp. 665-670
    • Honzík, T.1    Tesarová, M.2    Hansíková, H.3
  • 67
    • 33847639864 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features
    • Schüpbach WM, Vadday KM, Schaller A, et al. Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. J Neurol 2007;254:146-153.
    • (2007) J Neurol , vol.254 , pp. 146-153
    • Schüpbach, W.M.1    Vadday, K.M.2    Schaller, A.3
  • 68
    • 35649024143 scopus 로고    scopus 로고
    • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    • Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-3040.
    • (2007) Brain , vol.130 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3
  • 69
    • 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;39:534-539.
    • (2007) Nat Genet , vol.39 , pp. 534-539
    • Scheper, G.C.1    van der Klok, T.2    van Andel, R.J.3
  • 70
    • 74549201114 scopus 로고    scopus 로고
    • DARS2 mutations in mitochondrial leukoencephalopathy and multiple sclerosis
    • Isohanni P, Linnankivi T, Buzkova J, et al. DARS2 mutations in mitochondrial leukoencephalopathy 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
  • 71
    • 50049132598 scopus 로고    scopus 로고
    • Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings
    • Uluc K, Baskan O, Yildirim KA, et al. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci 2008;273:118-122.
    • (2008) J Neurol Sci , vol.273 , pp. 118-122
    • Uluc, K.1    Baskan, O.2    Yildirim, K.A.3
  • 72
    • 78650210763 scopus 로고    scopus 로고
    • Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene
    • Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, et al. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J Child Neurol 2010;25:1425-1428.
    • (2010) J Child Neurol , vol.25 , pp. 1425-1428
    • Lin, J.1    Chiconelli Faria, E.2    Da Rocha, A.J.3    Rodrigues Masruha, M.4
  • 73
    • 0029161718 scopus 로고
    • Infantile-onset spinocerebellar ataxia: MR and CT findings
    • Koskinen T, Valanne L, Ketonen LM, et al. Infantile-onset spinocerebellar ataxia: MR and CT findings. Am J Neuroradiol 1995;16:1427-1433.
    • (1995) Am J Neuroradiol , vol.16 , pp. 1427-1433
    • Koskinen, T.1    Valanne, L.2    Ketonen, L.M.3
  • 74
    • 78649552868 scopus 로고    scopus 로고
    • Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
    • Chung KW, Suh BC, Cho SY, et al. Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. J Neurol Neurosurg Psychiatry 2010;81:1203-1206.
    • (2010) J Neurol Neurosurg Psychiatry , vol.81 , pp. 1203-1206
    • Chung, K.W.1    Suh, B.C.2    Cho, S.Y.3
  • 75
    • 0030930127 scopus 로고    scopus 로고
    • Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively
    • Nicolino M, Ferlin T, Forest M, et al. Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively. J Clin Endocrinol Metab 1997;82:3063-3067.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3063-3067
    • Nicolino, M.1    Ferlin, T.2    Forest, M.3
  • 76
    • 0028229785 scopus 로고
    • Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion
    • Nakai A, Goto Y, Fujisawa K, et al. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Lancet 1994;343:1397-1398.
    • (1994) Lancet , vol.343 , pp. 1397-1398
    • Nakai, A.1    Goto, Y.2    Fujisawa, K.3
  • 77
    • 0035940540 scopus 로고    scopus 로고
    • Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
    • Jaksch M, Horvath R, Horn N, et al. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 2001;57:1440-1446.
    • (2001) Neurology , vol.57 , pp. 1440-1446
    • Jaksch, M.1    Horvath, R.2    Horn, N.3
  • 78
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-575.
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3
  • 79
    • 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;79:544-548.
    • (2006) Am J Hum Genet , vol.79 , pp. 544-548
    • Karadimas, C.L.1    Vu, T.H.2    Holve, S.A.3
  • 80
    • 79952423328 scopus 로고    scopus 로고
    • POLG1 manifestations in childhood
    • Isohanni P, Hakonen AH, Euro L, et al. POLG1 manifestations in childhood. Neurology 2011;76:811-815.
    • (2011) Neurology , vol.76 , pp. 811-815
    • Isohanni, P.1    Hakonen, A.H.2    Euro, L.3
  • 81
    • 20844442462 scopus 로고    scopus 로고
    • POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    • Van Goethem G, Luoma P, Rantamäki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-1257.
    • (2004) Neurology , vol.63 , pp. 1251-1257
    • Van Goethem, G.1    Luoma, P.2    Rantamäki, M.3
  • 82
    • 57049125014 scopus 로고    scopus 로고
    • MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course
    • Zafeiriou DI, Rodenburg RJ, Scheffer H, et al. MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. Neuropediatrics 2008;39:172-175.
    • (2008) Neuropediatrics , vol.39 , pp. 172-175
    • Zafeiriou, D.I.1    Rodenburg, R.J.2    Scheffer, H.3
  • 83
    • 0036592658 scopus 로고    scopus 로고
    • Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction
    • Kang PB, Hunter JV, Melvin JJ, et al. Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction. J Child Neurol 2002;17:421-428.
    • (2002) J Child Neurol , vol.17 , pp. 421-428
    • Kang, P.B.1    Hunter, J.V.2    Melvin, J.J.3
  • 84
    • 0036121322 scopus 로고    scopus 로고
    • Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy
    • Weinstock A, Giglio P, Cohen ME, et al. Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. J Child Neurol 2002;17:47-49.
    • (2002) J Child Neurol , vol.17 , pp. 47-49
    • Weinstock, A.1    Giglio, P.2    Cohen, M.E.3
  • 85
    • 78751706006 scopus 로고    scopus 로고
    • A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
    • Lebre AS, Rio M, Faivre d'Arcier L, et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 2011;48:16-23.
    • (2011) J Med Genet , vol.48 , pp. 16-23
    • Lebre, A.S.1    Rio, M.2    Faivre d'Arcier, L.3
  • 86
    • 0030850442 scopus 로고    scopus 로고
    • Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients
    • Lindner A, Hofmann E, Naumann M, et al. Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients. Mol Cell Biochem 1997;174:297-303.
    • (1997) Mol Cell Biochem , vol.174 , pp. 297-303
    • Lindner, A.1    Hofmann, E.2    Naumann, M.3
  • 87
    • 0036097810 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report
    • Majoie CB, Akkerman EM, Blank C, et al. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report. Am J Neuroradiol 2002;23:813-816.
    • (2002) Am J Neuroradiol , vol.23 , pp. 813-816
    • Majoie, C.B.1    Akkerman, E.M.2    Blank, C.3
  • 88
    • 0033926630 scopus 로고    scopus 로고
    • Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
    • de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, et al. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. J Pediatr 2000;136:209-214.
    • (2000) J Pediatr , vol.136 , pp. 209-214
    • de Lonlay-Debeney, P.1    von Kleist-Retzow, J.C.2    Hertz-Pannier, L.3
  • 90
    • 34250630560 scopus 로고    scopus 로고
    • Neuropathology of mitochondrial diseases
    • Filosto M, Tomelleri G, Tonin P, et al. Neuropathology of mitochondrial diseases. Biosci Rep 2007;27:23-30.
    • (2007) Biosci Rep , vol.27 , pp. 23-30
    • Filosto, M.1    Tomelleri, G.2    Tonin, P.3
  • 91
    • 0025968316 scopus 로고
    • Myelin splitting in the spongy lesion in Leigh encephalopathy
    • Kimura S, Kobayashi T, Amemiya F. Myelin splitting in the spongy lesion in Leigh encephalopathy. Pediatr Neurol 1991;7:56-58.
    • (1991) Pediatr Neurol , vol.7 , pp. 56-58
    • Kimura, S.1    Kobayashi, T.2    Amemiya, F.3
  • 92
    • 0036940016 scopus 로고    scopus 로고
    • Concentric structure of thalamic lesions in acute necrotizing encephalopathy
    • Mizuguchi M, Hayashi M, Nakano I, et al. Concentric structure of thalamic lesions in acute necrotizing encephalopathy. Neuroradiology 2002;44:489-493.
    • (2002) Neuroradiology , vol.44 , pp. 489-493
    • Mizuguchi, M.1    Hayashi, M.2    Nakano, I.3
  • 93
    • 12344328447 scopus 로고    scopus 로고
    • Neurodegenerative disease in infants with multiple congenital malformations-report of two cases
    • Schmidt-Sidor B, Mierzewska H, Turzyniecka M, et al. Neurodegenerative disease in infants with multiple congenital malformations-report of two cases. Folia Neuropathol 2004;42:221-226.
    • (2004) Folia Neuropathol , vol.42 , pp. 221-226
    • Schmidt-Sidor, B.1    Mierzewska, H.2    Turzyniecka, M.3
  • 94
    • 0036128257 scopus 로고    scopus 로고
    • Imaging of white matter lesions
    • Barkhof F, Scheltens P. Imaging of white matter lesions. Cerebrovasc Dis 2002;13(suppl 2):21-30.
    • (2002) Cerebrovasc Dis , vol.13 , Issue.SUPPL. 2 , pp. 21-30
    • Barkhof, F.1    Scheltens, P.2
  • 95
    • 24344463954 scopus 로고    scopus 로고
    • MR diffusion tensor imaging, fiber tracking, and single-voxel spectroscopy findings in an unusual MELAS case
    • Ducreux D, Nasser G, Lacroix C, et al. MR diffusion tensor imaging, fiber tracking, and single-voxel spectroscopy findings in an unusual MELAS case. Am J Neuroradiol 2005;26:1840-1844.
    • (2005) Am J Neuroradiol , vol.26 , pp. 1840-1844
    • Ducreux, D.1    Nasser, G.2    Lacroix, C.3
  • 96
    • 77956233741 scopus 로고    scopus 로고
    • The use of neuroimaging in the diagnosis of mitochondrial disease
    • Friedman SD, Shaw DW, Ishak G, et al. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev 2010;16:129-135.
    • (2010) Dev Disabil Res Rev , vol.16 , pp. 129-135
    • Friedman, S.D.1    Shaw, D.W.2    Ishak, G.3
  • 97
    • 20444496959 scopus 로고    scopus 로고
    • MRI findings in an atypical case of Kearns-Sayre syndrome: a case report
    • Sacher M, Fatterpekar GM, Edelstein S, et al. MRI findings in an atypical case of Kearns-Sayre syndrome: a case report. Neuroradiology 2005;47:241-244.
    • (2005) Neuroradiology , vol.47 , pp. 241-244
    • Sacher, M.1    Fatterpekar, G.M.2    Edelstein, S.3
  • 98
    • 33847064731 scopus 로고    scopus 로고
    • A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene
    • Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol 2007;49:65-67.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 65-67
    • Hung, P.C.1    Wang, H.S.2
  • 99
    • 33748994004 scopus 로고    scopus 로고
    • Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion
    • Vedolin L, de Souza CF, Silveira RS, et al. Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion. Childs Nerv Syst 2006;22:1355-1359.
    • (2006) Childs Nerv Syst , vol.22 , pp. 1355-1359
    • Vedolin, L.1    de Souza, C.F.2    Silveira, R.S.3
  • 101
    • 0033828222 scopus 로고    scopus 로고
    • Leigh syndrome: serial MR imaging and clinical follow-up
    • Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. Am J Neuroradiol 2000;21:1502-1509.
    • (2000) Am J Neuroradiol , vol.21 , pp. 1502-1509
    • Arii, J.1    Tanabe, Y.2
  • 102
    • 18544378181 scopus 로고    scopus 로고
    • Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies
    • Barragán-Campos HM, Vallée JN, Lô D, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62:737-742.
    • (2005) Arch Neurol , vol.62 , pp. 737-742
    • Barragán-Campos, H.M.1    Vallée, J.N.2    Lô, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.