Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

Neurology

Volumn 77, Issue 22, 2011, Pages 1965-1971

  Kaufmann, Petra ^a   Engelstad, K ^a   Wei, Y ^a   Kulikova, R ^a   Oskoui, M ^b   Sproule, D M ^b   Battista, V ^a   Koenigsberger, D Y ^a   Pascual, J M ^c   Shanske, S ^a   Sano, M ^d   Mao, X ^a   Hirano, M ^a   Shungu, D C ^a   DiMauro, S ^a   De Vivo, D C ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b Departments of Neurology Physiology and Pediatrics   (Canada)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; BRAIN VENTRICLE; CHILD; CHILDHOOD; CONTROLLED STUDY; DAILY LIFE ACTIVITY; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; GENOTYPE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MELAS SYNDROME; MORTALITY; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OUTCOME ASSESSMENT; PHYSICAL EXAMINATION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PROSPECTIVE STUDY; QUESTIONNAIRE; RELATIVE; REVIEW; SCHOOL CHILD; SCORING SYSTEM; SURVIVAL;

EID: 82955225292     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31823a0c7f     Document Type: Review

References (22)

1. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: Clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-398.
2. Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes(MELAS): Current concepts. J Child Neurol 1994;9: 4-13. (Pubitemid 24022131)
3. Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochim Biophys Acta 1991;1097:238-240.
4. De Vivo DC, DiMauro S. Mitochondrial defects of brain and muscle. Biol Neonate 1990;58(Suppl 1):54-69. (Pubitemid 20320974)
5. De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1-22. (Pubitemid 23193351)
6. Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-653. (Pubitemid 120015131)
7. Manwaring N, Jones MM, Wang JJ, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007;7:230-233. (Pubitemid 46420125)
8. Ciafaloni E, Ricci E, Servidei S, et al. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991;41:1663-1664.
9. Damian MS, Seibel P, Reichmann H, et al. Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 1995;92:409-415.
10. Morovvati S, Nakagawa M, Sato Y, Hamada K, Higuchi I, Osame M. Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation. Acta Neurol Scand 2002;106:104-108. (Pubitemid 34831926)
11. Huang CC, Kuo HC, Chu CC, Liou CW, Ma YS, Wei YH. Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci 2002;9:527-533.
12. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF: The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-1721. (Pubitemid 27443048)
13. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF: The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998;121:1889-1894. (Pubitemid 28454358)
14. Majamaa-Voltti KA, Winqvist S, Remes AM, et al. A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA. Neurology 2006;66: 1470-1475. (Pubitemid 43958538)
15. Kaufmann P, Shungu DC, Sano MC, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;62:1297-1302. (Pubitemid 38526040)
16. Kaufmann P, Engelstad K, Wei Y, et al. Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol 2009;66:85-91.
17. Karnofsky KA, Burchenal JH. The clinical evaluation of chemotherapeutic agents in cancer. In: MacLeod CM, ed. Evaluation of Chemotherapeutic Agents. New York: Columbia University Press; 1949:196.
18. Kaufmann P, Koga Y, Shanske S, et al. Mitochondrial DNA and RNA processing in MELAS. Ann Neurol 1996; 40:172-180. (Pubitemid 26274552)
19. Duyn JH, Gillen J, Sobering G, van Zijl PC, Moonen CT. Multisection proton MR spectroscopic imaging of the brain. Radiology 1993;188:277-282. (Pubitemid 23183139)
20. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 1998;63:1908-1911. (Pubitemid 30415753)
21. Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am J Hum Genet 2001;68:533-536. (Pubitemid 32147825)
22. Majamaa-Voltti K, Turkka J, Kortelainen ML, Huikuri H, Majamaa K. Causes of death in pedigrees with the 3243A>G mutation in mitochondrial DNA. J Neurol Neurosurg Psychiatry 2008;79:209-211. (Pubitemid 351236560)