Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS)

Reviews in Neurological Diseases

Volumn 2, Issue 1, 2005, Pages 30-34

  Matsumoto, Joyce ^a   Saver, Jeffrey L ^a   Brennan, K C ^a   Ringman, John M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

A3243G; Epilepsy; Mitochondrial disorders; Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS); mtDNA mutation; Seizures; Stroke

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AMINO ACID SUBSTITUTION; BRAIN BIOPSY; CASE REPORT; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HEADACHE; HEARING LOSS; HUMAN; MALE; MELAS SYNDROME; MIGRAINE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHYSICAL EXAMINATION; PROGNOSIS; REVIEW; SEIZURE; VASCULITIS;

ACIDOSIS, LACTIC; ADULT; CEREBROVASCULAR ACCIDENT; HUMANS; MALE; MELAS SYNDROME;

EID: 16344385624     PISSN: 15452913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (24)

1. Saver J, Tamburi T. Genetics of cerebrovascular disease. In: Pulst S-M, ed. Neurogenetics. New York, NY: Oxford University Press; 2000:403-431.
2. Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984;16:481-488.
3. Hirano M, Ricci E, Koenigsberger MR, et al. MELAS: an original case and clinical criteria for diagnosis. Neuromuscul Disord. 1992;2:125-135.
4. Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 1994;9:4-13.
5. Thambisetty M, Newman NJ, Glass JD, Frankel MR. A practical approach to the diagnosis and management of MELAS: case report and review. Neurologist. 2002;8:302-312.
6. Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet. 1998;63:447-454.
7. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol. 1996;36:260-267.
8. Bernier FP, Boneh A, Dennett X, et al. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406-1411.
9. Iizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology. 2002;59:816-824.
10. Amagasaki K, Shimizu T, Suzuki Y, Kakizawa T. Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Case report. J Neurosurg. 2001;94:133-136.
11. Clark JM, Marks MP, Adalsteinsson E, et al. MELAS: clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. Neurology. 1996;46:223-227.
12. Yoneda M, Maeda M, Kimura H, et al. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology. 1999;53:2182-2184.
13. Kolb SJ, Costello F, Lee AG, et al. Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping. J Neurol Sci. 2003;216:11-15.
14. Wang XY, Noguchi K, Takashima S, et al. Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology. 2003;45:640-643.
15. Pavlakis SG, Kingsley PB, Kaplan GP, et al. Magnetic resonance spectroscopy: use in monitoring MELAS treatment. Arch Neurol. 1998;55:849-852.
16. Kamada K, Takeuchi F, Houkin K, et al. Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis. J Neurol Neurosurg Psychiatry. 2001;70:675-678.
17. Abe K, Yoshimura H, Tanaka H, et al. Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. Neuroradiology. 2004;46:113-117.
18. Kaufmann P, Shungu DC, Sano MC, et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology. 2004;62:1297-1302.
19. Valanne L, Paetau A, Suomalainen A, et al. Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations. Neuropediatrics. 1996;27:154-160.
20. 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.
21. Sparaco M, Simonati A, Cavallaro T, et al. MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol (Berl). 2003;106:202-212.
22. Huang CC, Kuo HC, Chu CC, et al. Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci. 2002;9:527-533.
23. Schon EA, DiMauro S. Medicinal and genetic approaches to the treatment of mitochondrial disease. Curr Med Chem. 2003;10:2523-2533.
24. Saitoh S, Momoi MY, Yamagata T, et al. Effects of dichloroacetate in three patients with MELAS. Neurology. 1998;50:531-534.