Central nervous system imaging in mitochondrial disorders

Canadian Journal of Neurological Sciences

Volumn 36, Issue 2, 2009, Pages 143-153

  Finsterer, Josef ^a  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN ATROPHY; BRAIN CALCIFICATION; BRAIN CYST; BRAIN DAMAGE; BRAIN EDEMA; BRAIN HEMORRHAGE; BRAIN PERFUSION; CEREBROVASCULAR ACCIDENT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; DEMYELINATING DISEASE; DIGITAL SUBTRACTION ANGIOGRAPHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOPPLER ECHOGRAPHY; HUMAN; HYPOPHYSIS; LACTIC ACIDOSIS; MAGNETIC RESONANCE ANGIOGRAPHY; MOYAMOYA DISEASE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; REVIEW; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; X RAY; CENTRAL NERVOUS SYSTEM; DIAGNOSTIC IMAGING; METHODOLOGY; PATHOLOGY;

CENTRAL NERVOUS SYSTEM; DIAGNOSTIC IMAGING; HUMANS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MITOCHONDRIAL DISEASES; TOMOGRAPHY, X-RAY COMPUTED;

EID: 65649127236     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100006508     Document Type: Review

References (91)

1. Zeviani M, Carelli V. Mitochondrial disorders. Curr Opin Neurol. 2007;20:564-571.
2. Finsterer J. Mitochondriopathies. Eur J Neurol. 2004;11:163-186.
3. Finsterer J, Jarius C, Eichberger H. Phenotype variability in 130 adult patients with respiratory chain disorder. J Inher Metab Dis. 2001;24:560-576.
4. Leonard JV, Schapira AHV. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet. 2000;355: 299-304.
5. Berio A, Piazzi A. A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. PanminervaMed. 2002;44:265-269.
6. Kaufmann P, Shungu DC, Sano MC, Jhung S, Engelstad K, Mitsis E, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004;62:1297-1302.
7. Ahn MS, Sims KB, Frazier JA. Risperidone-induced psychosis and depression in a child with a mitochondrial disorder. J Child Adolesc Psychopharmacol. 2005;15:520-525.
8. Gire C, Girard N, Nicaise C, Einaudi MA, Montfort MF, Dejode JM. Clinical features and neuroradiological findings of mitochondrial pathology in six neonates. Childs Nerv Syst. 2002;18:621-628.
9. Haas R, Dietrich R. Neuroimaging of mitochondrial disorders. Mitochondrion. 2004;4:471-490.
10. Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology. 2004;63:1251-1257.
11. Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. Am J Roentgenol. 2004;182:1537-1541. (Pubitemid 38668860)
12. Apostolova LG, White M, Moore SA, Davis PH. Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS. Arch Neurol. 2005;62:1154-1156.
13. Dinopoulos A, Cecil KM, Schapiro MB, Papadimitriou A, Hadjigeorgiou GM, Wong B, et al. Brain MRI and proton MRS findings in infants and children with respiratory chain defects. Neuropediatrics. 2005;36:290-301.
14. Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D. White matter involvement in mitochondrial diseases. Mol Genet Metab. 2005;84:127-136.
15. Abe K. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004;63:2458.
16. Desguerre I, Pinton F, Nabbout R, Moutard ML, N'Guyen S, Marsac C, et al. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G mtDNA mutation. Neuropediatrics. 2003;34:265-269.
17. Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M, Savoiardo M. MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. Am J Neuroradiol. 2002;23:1095-1100.
18. Rossi A, Biancheri R, Bruno C,DiRoccoM, Calvi A,Pessagno A, et al. Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. Am J Neuroradiol. 2003;24: 1188-1191.
19. Topcu M, Saatci I, Apak RA, Soylemezoglu F, Akcoren Z. Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings. Am J Neuroradiol. 2000;21:224-227.
20. Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol. 2002;6:121-123.
21. Vinkler C, Lev D, Kalish H, Watemberg N, Yanoov-Sharav M, Leshinsky-Silver E, et al. Familial optic atrophy with white matter changes. Am J Med Genet A. 2003 1;121:263-265.
22. Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Cerebral white matter involvement in children with mitochondrial encephalopathies. Neuropediatrics. 2002;33: 79-85.
23. Weinstock A, Giglio P, Cohen ME, Bakshi R, Januario J, Balos L. Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. J Child Neurol. 2002; 17:47-49.
24. Iizuka T, Sakai F, Ide T, Miyakawa S, Sato M, Yoshii S. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS - implication of neurovascular cellular mechanism. J Neurol Sci. 2007;257: 126-138.
25. Feng F, You H, Gao J, Li XZ, Meng CL, Sun HY, et al. Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy. Chin Med Sci J. 2006; 21:234-238.
26. Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. Neurol India. 2005;53:323-325.
27. Kolb SJ, Costello F, Lee AG, White M, Wong S, Schwartz ED, et al. Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping. J Neurol Sci.2003;216:11-15.
28. Ohshita T, Oka M, Imon Y, Watanabe C, Katayama S, Yamaguchi S, et al. Serial diffusion-weighted imaging in MELAS. Neuroradiology. 2000;42:651-656.
29. Oppenheim C, Galanaud D, Samson Y, Sahel M, Dormont D, Wechsler B, et al. Can diffusion weighted magnetic resonance imaging help differentiate stroke from stroke-like events in MELAS? J Neurol Neurosurg Psychiatry. 2000;69:248-250.
30. Iizuka T, Sakai F, Kan S, Suzuki N. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology. 2003;61:1238-1244.
31. Kim HS, Kim DI, Lee BI, Jeong EK, Choi C, Lee JD, et al. Diffusion-weighted image and MR spectroscopic analysis of a case of MELAS with repeated attacks. Yonsei Med J. 2001 ;42: 128-133.
32. Mizrachi IB, Gomez-Hassan D, Blaivas M,Trobe JD. Pitfalls in the diagnosis of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol. 2006;26:38-43.
33. Wang XY, Noguchi K, Takashima S, Hayashi N, Ogawa S, Seto H. Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 2003;45:640-643.
34. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, et al. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A. 2008;146: 361-367.
35. Maeda K, Tatsumi M, Tahara M, Murata Y, Kawai H, Yasuda H. A case of stroke-like episode of MELAS of which progressive spread would be prevented by edaravone. Rinsho Shinkeigaku. 2005 ;45:416-421.
36. Bi WL, Baehring JM, Lesser RL. Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol. 2006;26: 251-256.
37. Corda D, Rosati G, Deiana GA, Sechi G. "Erratic" complex partial status epilepticus as a presenting feature of MELAS. Epilepsy Behav.2006;8:655-658.
38. van der Knaap MS, Smit LS,Nauta JJ,Lafeber HN, Valk J. Cortical laminar abnormalities-occurrence and clinical significance. Neuropediatrics. 1993;24:143-148.
39. Donaire A, Carreno M, Gómez B, Fossas P, Bargalló N, Agudo R, et al. Cortical laminar necrosis related to prolonged focal status epilepticus. J Neurol Neurosurg Psychiatry. 2006;77:104-106.
40. Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. Am J Neuroradiol. 2000;21:1502-1509.
41. Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004;41:14-17.
42. Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, et al. The mitochondrial DN A G13 513 A MEL AS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003 ;40:188-191.
43. Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, et al. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J Neurol Neurosurg Psychiatry. 2006;77:74-76.
44. Martin MA, Blazquez A, Gutierrez-Solana LG, Fernández-Moreira D, Briones P, Andreu AL, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol. 2005;62:659-661.
45. McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurol. 2002;1:343-351.
46. Bargalló N, Burrel M, Berenguer J, Cofan F, Buñesch L, Mercader JM. Cortical laminar necrosis caused by immunosuppressive therapy and chemotherapy. Am J Neuroradiol. 2000;21:479-484.
47. Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramírez CF, Argote-Greene M, Sánchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol. 2005;62:737-742.
48. Geldof K, Ramboer K, Goethals JM, Verhaeghe L. CT and MRI appearance of mitochondrial encephalopathy. JBR-BTR. 2007; 90:288-289.
49. Scaglia F, Wong LJ, Vladutiu GD, Hunter JV. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. Am J Neuroradiol. 2005;26:1675-1680.
50. Kim J, Lee SK, Kim EY, Kim DI, Lee YM, Lee JS, et al. Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects. Eur Radiol. 2008;18:1741-1748.
51. van Straaten HL, van Tintelen JP, Trijbels JM, van den Heuvel LP, Troost D, Rozemuller JM, et al. Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. Neuropediatrics. 2005;36:193-199.
52. Keng WT, Pilz DT, Minns B, FitzPatrick DR. A3243G mitochondrial mutation associated with polymicrogyria. Dev Med Child Neurol. 2003;45:704-708.
53. Walker M, Samii A, Bird T. Coexistence of tuberous sclerosis and Friedreich ataxia. J Neurol Sci. 2004;221:91-93.
54. Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand. 2006;114:217-238.
55. Riggs JE, Schochet SS Jr, Fakadej AV, Riggs JE, Schochet SS Jr, Fakadej AV, et al. Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. Neurology. 1984;34:48-53.
56. Kotagal S, Peterson PL, Martens ME, Lee CP, Nigro M, Archer CR. Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome. Pediatr Neurol. 1988;4:241-244.
57. Iizuka T, Sakai F, Suzuki N, Hata T, Tsukahara S, Fukuda M, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology. 2002;59:816-824.
58. Petruzzella V, Zoccolella S, Amati A, Torraco A, Lamberti P, Carnicella F, et al. Cerebellar ataxia as atypical manifestation of the 3243AG MELAS mutation. Clin Genet. 2004;65:64-65.
59. Younes-Mhenni S, Thobois S, Streichenberger N, Giraud P, Mousson-de-Camaret B, Montelescaut ME, et al. Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with a Fahr disease and cerebellar calcifications. Rev Med Interne. 2002;23:1027-1029.
60. Breningstall GN, Lockman LA. Massive focal brain swelling as a feature of MELAS. Pediatr Neurol. 1988;4:366-370.
61. Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Disord.2004;14:237-245.
62. Sakuta R, Honzawa S, Murakami N, Goto Y, Nagai T. Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation. Pediatr Neurol. 2002;27:397-400.
63. Brown GK. Congenital brain malformations in mitochondrial disease. J Inherit Metab Dis. 2005;28:393-401.
64. Majoie CB, Akkerman EM, Blank C, Barth PG, Poll-The BT, den Heeten GJ. Mitochondrial encephalomyopathy: comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging: case report. Am J Neuroradiol. 2002;23:813-816.
65. Ulmer S, Flemming K, Hahn A, Stephani U, Jansen O. Detection of acute cytotoxic changes in progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome) using diffusion-weighted MRI and MR spectroscopy. J Comput Assist Tomogr. 2002;26:641-646.
66. Wolf NI, Seitz A, Harting I, Smeitink JA, Trijbels F, van den Heuvel LP, et al. New pattern of brain MRI lesions in isolated complex I deficiency. Neuropediatrics. 2003;34:156-159.
67. Argov Z, Arnold DL. MR spectroscopy and imaging in metabolic myopathies. Neurol Clin. 2000;18:35-52.
68. Bianchi MC, Tosetti M, Battini R, Manca ML, Mancuso M, Cioni G, et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. Am J Neuroradiol. 2003;24:1958-1966.
69. Gulati S, Shah T, Menon S, Jayasundar R, Kalra V. Magnetic resonance spectroscopy in pediatric neurology. Indian J Pediatr. 2003;70:317-325.
70. Jeppesen TD, Schwartz M, Hansen K, Danielsen ER, Wibrand F, Vissing J. Late onset of stroke-like episode associated with a 3256C-T point mutation of mitochondrial DNA. J Neurol Sci. 2003;214:17-20.
71. Kamada K, Takeuchi F, Houkin K, Kitagawa M, Kuriki S, Ogata A, et al. Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis. J Neurol Neurosurg Psychiatry. 2001;70:675-678.
72. Lin DD, Crawford TO, Barker PB. Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. Am J Neuroradiol. 2003;24:33-41.
73. Moller HE, Kurlemann G, Putzler M, Wiedermann D, Hilbich T, Fiedler B. Magnetic resonance spectroscopy in patients with MELAS. J Neurol Sci. 2005;229-30
74. Moller HE, Wiedermann D, Kurlemann G, Hilbich T, Schuierer G. Application of NMR spectroscopy to monitoring MELAS treatment: a case report. Muscle Nerve. 2002;25:593-600
75. Otsuki T, Kanamatsu T, Tsukada Y, Goto Y, Okamoto K, Watanabe H. Carbon 13-labeled magnetic resonance spectroscopy observation of cerebral glucose metabolism: metabolism in MELAS: case report. Arch Neurol. 2005;62:485-487.
76. Rango M, Bonifati C, Bresolin N. Parkinson's disease and brain mitochondrial dysfunction: a functional phosphorus magnetic resonance spectroscopy study. J Cereb Blood Flow Metab. 2006; 26:283-290.
77. Sciacco M, Prelle A, D'Adda E, Lamperti C, Bordoni A, Rango M, et al. Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J Neurol. 2003; 250:1498-1500.
78. Wilichowski E, Pouwels PJ, Frahm J, Hanefeld F. Quantitative proton magnetic resonance spectroscopy of cerebral metabolic disturbances in patients with MELAS. Neuropediatrics. 1999;30: 256-263.
79. Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, et al. Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 2002;72:805-807.
80. Valentino ML, Barboni P, Ghelli A, Bucchi L, Rengo C, Achilli A, et al. The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol. 2004;56: 631-641.
81. Sijens PE, Smit GP, Rödiger LA, van Spronsen FJ, Oudkerk M, Rodenburg RJ, et al. MR spectroscopy of the brain in Leigh syndrome. Brain Dev. In Press 2008.
82. José daRocha A,Túlio Braga F, Carlos Martins Maia A Jr, Jorge da Silva C, Toyama C, Pereira Pinto Gama H, et al. Lactate detection by MRS in mitochondrial encephalopathy: optimization of technical parameters. J Neuroimaging. 2008;18: 1-8.
83. Bianchi MC, Sgandurra G, Tosetti M, Battini R, Cioni G. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep. 2007;27:69-85.
84. Saneto RP, Friedman SD, Shaw DW. Neuroimaging of mitochondrial disease. Mitochondrion. In Press 2008.
85. Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann Neurol. 2000;47:179-185.
86. Turconi AC, Benti R, Castelli E, Pochintesta S, Felisari G, Comi G, et al. Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study. J Neurol Sci. 1999;170:57-63.
87. Minnerop M, Kornblum C, Joe AY, Tatsch K, Kunz WS, Klockgether T, et al. Dopamine transporter SPECT in patients with mitochondrial disorders. J Neurol Neurosurg Psychiatry. 2005;76:118-120.
88. Peng NJ, Liu RS, Li JY, Tsay DG, Kong KW, Kwok CG, et al. Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT. Neuroradiology. 2000;42:26-29.
89. Thajeb P, Wu MC, Shih BF, Tzen CY, Chiang MF, Yuan RY. Brain single photon emission computed tomography in patients with A3243G mutation in mitochondrial DNA tRNA. Ann N Y Acad Sci.2005;1042:48-54.
90. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet. 2004;364:875-882.
91. Damian MS, Hertel A, Seibel P, Reichmann H, Bachmann G, Schachenmayr W, et al. Follow-up in carriers of the 'MELAS' mutation without strokes. Eur Neurol. 1998;39:9-15.