Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome

Brain and Development

Volumn 21, Issue 3, 1999, Pages 200-204

  Takahashi, Satoru ^a   Oki, Junichi ^a   Miyamoto, Akie ^a   Okuno, Akimasa ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Lactate; Leigh syndrome; Magnetic resonance imaging; Magnetic resonance spectroscopy; Sodium dichloroacetate

Indexed keywords

DICHLOROACETIC ACID; LACTIC ACID; PYRUVIC ACID; THIAMINE;

ARTICLE; BRAIN METABOLISM; CASE REPORT; HUMAN; INFANT; LEIGH DISEASE; MALE; METABOLIC ACIDOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL DRUG ADMINISTRATION; POINT MUTATION; PROTON NUCLEAR MAGNETIC RESONANCE; PSYCHOMOTOR RETARDATION; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

BRAIN; DICHLOROACETATE; DNA, MITOCHONDRIAL; HUMANS; INFANT; LACTATES; LEIGH DISEASE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; POINT MUTATION; PSYCHOMOTOR PERFORMANCE; PYRUVATES; THIAMINE;

EID: 0033003953     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(98)00095-3     Document Type: Article

References (15)

1. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry. 14:1951;216-221.
2. Montpetit V.J., Andermann F., Carpenter S., Fawcett J.S., Zborowska-Sluis D., Giberson H.R. Subacute necrotizing encephalomyelopathy. A review and a study of two families. Brain. 94:1971;1-30.
3. Kretzschmar H.A., DeArmond S.J., Koch T.K., Patel M.S., Newth C.J., Schmidt K.A.et al. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics. 79:1987;370-373.
4. DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D.C., DiDonato S.et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 22:1987;498-506.
5. Hammans S.R., Sweeney M.G., Brockington M., Morgan-Hughes J.A., Harding A.E. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet. 337:1991;1311-1313.
6. Santorelli F.M., Shanske S., Macaya A., DeVivo D.C., DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol. 34:1993;827-834.
7. de Vries D.D., van Engelen B.G., Gabreëls F.J., Ruitenbeek W., van Oost B.A. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol. 34:1993;410-412.
8. Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 46:1990;428-433.
9. Koller K.J., Zaczek R., Coyle J.T. N-acetyl-aspartyl-glutamate: regional levels in rat brain and the effects of brain lesions as determined by a new HPLC method. J Neurochem. 43:1984;1136-1142.
10. 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders. Ann Neurol. 31:1992;202-211.
11. Takahashi S., Makita Y., Oki J., Miyamoto A., Yanagawa J., Naito E.et al. De novo mtDNA nt 8993 (T→G) mutation resulting in Leigh syndrome. Am J Hum Genet. 62:1998;717-719.
12. Penrice J., Cady E.B., Lorek A., Wylezinska M., Amess P.N., Aldridge R.F.et al. Proton magnetic resonance spectroscopy of the brain in normal preterm and term infants, and early changes after perinatal hypoxic-ischemia. Pediatr Res. 40:1996;6-14.
13. Frahm J., Bruhn H., Gyngell M.L., Merboldt K.D., Hänicke W., Sauter R. Localized high-resolution proton NMR spectroscopy using stimulated echoes: initial applications to human brain in vivo. Magn Reson Med. 9:1989;79-93.
14. DiMauro S., Zeviani M., Servidei S., Bonilla E., Miranda A.F., Prelle A.et al. Cytochrome oxidase deficiency: clinical and biochemical heterogeneity. Ann NY Acad Sci. 488:1986;19-32.
15. Kuroda Y., Ito M., Toshima K., Takeda E., Naito E., Hwang T.J.et al. Treatment of chronic congenital lactic acidosis by oral administration of dichloroacetate. J Inherit Metab Dis. 9:1986;244-252.