Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

Journal of Neurology

Volumn 260, Issue 4, 2013, Pages 1071-1080

  Tschampa, Henriette J ^a   Urbach, Horst ^a   Greschus, Susanne ^a   Kunz, Wolfram S ^a   Kornblum, Cornelia ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Basal ganglia; MELAS; Mitochondrial myopathy; MRI; Stroke like episodes

Indexed keywords

ADULT; ARTICLE; BRAIN ATROPHY; BRAIN CALCIFICATION; CEREBELLUM; CEREBELLUM ATROPHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CLINICAL PRACTICE; COMPUTER ASSISTED TOMOGRAPHY; DIFFUSION WEIGHTED IMAGING; DISEASE DURATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GRAY MATTER; HETEROPLASMY; HUMAN; MALE; MELAS SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MTTL1 GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; ATROPHY; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MELAS SYNDROME; MIDDLE AGED; MUTATION; NERVE FIBERS, MYELINATED; RNA, TRANSFER, LEU; STROKE;

EID: 84876501833     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6763-4     Document Type: Article

References (32)

1. Goto Y, Nonaka I, Horai S (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653
2. Pavlakis SG, Phillips PC, DiMauro S, De V, Rowland LP (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16:481-488
3. Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP (1992) Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 2:125-135
4. Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De V, DiMauro S (2009) Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet A 149A:584-587
5. Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE (1995) The mitochondrial DNA transfer RNALeu(UUR) A → G(3243) mutation. A clinical and genetic study. Brain 118:721-734
6. Barkovich AJ, Good WV, Koch TK, Berg BO (1993) Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 14:1119-1137
7. Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H (1998) Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 19:369-377
8. Ito H, Mori K, Kagami S (2011) Neuroimaging of stroke-like episodes in MELAS. Brain Dev 33:283-288
9. Ohshita T, Oka M, Imon Y, Watanabe C, Katayama S, Yamaguchi S, Kajima T, Mimori Y, Nakamura S (2000) Serial diffusion-weighted imaging in MELAS. Neuroradiology 42:651-656
10. Haas R, Dietrich R (2004) Neuroimaging of mitochondrial disorders. Mitochondrion 4:471-490
11. Ito H, Mori K, Harada M, Minato M, Naito E, Takeuchi M, Kuroda Y, Kagami S (2008) Serial brain imaging analysis of stroke-like episodes in MELAS. Brain Dev 30:483-488
12. Tzoulis C, Bindoff LA (2009) Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Stroke 40:e15-e17
13. Wang XY, Noguchi K, Takashima S, Hayashi N, Ogawa S, Seto H (2003) Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology 45:640-643
14. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
15. Wahlund LO, Barkhof F, Fazekas F, Bronge L, Augustin M, Sjogren M, Wallin A, Ader H, Leys D, Pantoni L, Pasquier F, Erkinjuntti T, Scheltens P (2001) A new rating scale for age-related white matter changes applicable to MRI and CT. Stroke 32:1318-1322
16. Kim IO, Kim JH, Kim WS, Hwang YS, Yeon KM, Han MC (1996) Mitochondrial myopathy-encephalopathy-lactic acidosis- and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol 166:641-645
17. van der Knaap MS, Smit LS, Nauta JJ, Lafeber HN, Valk J (1993) Cortical laminar abnormalities - occurrence and clinical significance. Neuropediatrics 24:143-148
18. Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol 74:226-233
19. Sakuta R, Nonaka I (1989) Vascular involvement in mitochondrial myopathy. Ann Neurol 25:594-601
20. Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain 135:1736-1750
21. Iizuka T, Sakai F, Ide T, Miyakawa S, Sato M, Yoshii S (2007) Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in MELAS - implication of neurovascular cellular mechanism. J Neurol Sci 257:126-138
22. Gutierrez LG, Rovira A, Portela LA, Leite CC, Lucato LT (2010) CT and MR in non-neonatal hypoxic-ischemic encephalopathy: radiological findings with pathophysiological correlations. Neuroradiology 52:949-976
23. Sparaco M, Simonati A, Cavallaro T, Bartolomei L, Grauso M, Piscioli F, Morelli L, Rizzuto N (2003) MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol 106:202-212
24. Virtanen SM, Lindroos MM, Majamaa K, Nuutila P, Borra RJ, Parkkola R (2011) Voxelwise analysis of diffusion tensor imaging and structural MR imaging in patients with the m.3243A>G mutation in mitochondrial DNA. AJNR Am J Neuroradiol 32:522-526
25. Fujioka M, Taoka T, Matsuo Y, Hiramatsu KI, Sakaki T (1999) Novel brain ischemic change on MRI. Delayed ischemic hyperintensity on T1-weighted images and selective neuronal death in the caudoputamen of rats after brief focal ischemia. Stroke 30:1043-1046
26. Fujioka M, Taoka T, Hiramatsu KI, Sakaguchi S, Sakaki T (1999) Delayed ischemic hyperintensity on T1-weighted MRI in the caudoputamen and cerebral cortex of humans after spectacular shrinking deficit. Stroke 30:1038-1042
27. Fujioka M, Taoka T, Matsuo Y, Mishima K, Ogoshi K, Kondo Y, Tsuda M, Fujiwara M, Asano T, Sakaki T, Miyasaki A, Park D, Siesjo BK (2003) Magnetic resonance imaging shows delayed ischemic striatal neurodegeneration. Ann Neurol 54:732-747
28. Boyko OB, Burger PC, Shelburne JD, Ingram P (1992) Non-heme mechanisms for T1 shortening: pathologic, CT, and MR elucidation. AJNR Am J Neuroradiol 13:1439-1445
29. Sue CM, Crimmins DS, Soo YS, Pamphlett R, Presgrave CM, Kotsimbos N, Jean-Francois MJ, Byrne E, Morris JG (1998) Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 65:233-240
30. Chung SH, Chen SC, Chen WJ, Lee CC (2005) Symmetric basal ganglia calcification in a 9-year-old child with MELAS. Neurology 65:E19
31. Rahman S, Poulton J, Marchington D, Suomalainen A (2001) Decrease of 3243 A → G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 68:238-240
32. de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA (2012) Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation. J Inherit Metab Dis 35(6):1059-1069