Syndrome leigh caused by mutations in the SURF1 gene: Clinical and molecular-genetic characteristics

Zhurnal Nevrologii i Psihiatrii imeni S.S. Korsakova

Volumn 110, Issue 1, 2010, Pages 25-32

  Tsygankova, P G ^a   Mikhailova, S V ^a   Zakharova, E Yu ^a   Pichkur, N A ^a   Il'ina, E S ^a   Nikolaeva, E A ^a   Rudenskaya, G E ^a   Dadali, E L ^a   Kolpakchi, L M ^a   Fedoniuk, I D ^a   Matushchenko, G N ^a  

^a NONE

Author keywords

Lactate; Mitochondrial encephalomyopathies; MRI; Subacute necrotizing encephalomyelopathy; SURF1 gene; Syndrome Leigh

Indexed keywords

LACTIC ACID; NUCLEOTIDE; DNA; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; SURF 1 PROTEIN; SURF-1 PROTEIN;

ARTICLE; BASAL GANGLION; BRAIN ATROPHY; BRAIN CORTEX; BRAIN STEM; CEREBELLUM; CHILD; CLINICAL ARTICLE; DEMYELINATION; DISEASE COURSE; EXON; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HYPERTRICHOSIS; INFANT; LACTATE BLOOD LEVEL; LEIGH DISEASE; MOLECULAR GENETICS; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; POLAND; POLYMERASE CHAIN REACTION; PSYCHOMOTOR DEVELOPMENT; RUSSIAN FEDERATION; SUBCORTEX; SURF1 GENE; COMPARATIVE STUDY; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; MUTATION; PRESCHOOL CHILD; PREVALENCE; UKRAINE;

CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; RUSSIA; UKRAINE;

EID: 77954727573     PISSN: 19977298     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Aicardi Jean. Diseases of the Nervous System in Childhood. 2-nd Edition 1998;897.
2. Benit P., Slama A., Cartault F. et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet 2004;41:14-17.
3. Bourgeron T., Rustin P., Chretien D. et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet 1995;11:144-149.
4. Cooper J., Itokawa Y., Pincus J. Thiamine triphosphate deficiency in subacute necrotizing encephalomyelopathy. Science 1969;164:74-75.
5. Cooper J., Pincus J., Itokawa Y. et al. Experience with phosphoryl transferase inhibition in subacute necrotizing encephalomyelopathy. New Eng J Med 1970;283:793-795.
6. Dahl H. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. Am J Hum Genet 1998;63:1594-1597.
7. DiMauro S., De Vivo D. Gen etic heterogeneity in L eigh syn drome. (Letter) Ann Neurol 1996;40:5-7.
8. Piekutowska-Abramczuk D., Popowska E., Pronicki M. et al. High prevalence of SURF1c.845-846delCT mutation in Polish Leigh patients. Eur J Paediat Neurol 2008
9. Gilbert E., Arya S., Chun R. Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency. Arch Path Lab Med 1983;107:162-166.
10. nd ed. New York 1996;379.
11. Gordon N., Marsden H., Lewis D. Subacute necrotizing encephalomyelopathy in three siblings. Dev Med Child Neurol 1974;16:64-78.
12. Head R., Brown R., Brown G. Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome. J Inherit Metab Dis 2004;27:57-65.
13. Hommes F., Polman H., Reerink J. L eigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child 1968;43:423-426.
14. Kustermann-Kuhn B., Harzer K., Schroder R. et al. Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE). Hum Genet 1984;68:51-53.
15. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiat 1951;14:216-221.
16. Loeffen J., Smeitink J., Triepels R. et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998;63:1598-1608.
17. Luft R., Ikkos D., Palmieri G. et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-1804.
18. nd Ed. Philadelphia Lea & Febiger 1985;827.
19. Ogawa Y., Naito E., Ito M. et al. Three novel SURF-1 mutations in Japanese patients with Leigh syndrome. Pediat Neurol 2002;26:3: 196-200.
20. Pecina P., Gnaiger E., Zeman J. et al. Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations. Am J Physiol Cell Physiol 2004;287:1384-1388.
21. Rahman S., Blok R., Dahl H. et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351.
22. Scriver C. R., Beaudet A. L., Sly W. S., Valle D. The Metabolic Basis of Inherited Disease. New York: McGraw-Hill (pub.) (8th ed.) 2001;6338.
23. Tiranti V., Jaksch M., Hofmann S. et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency. Ann Neurol 1999;46:161-166.
24. van der Knaap M. S., Valk J. Magnetic Resonance of Myelination and Myelin Disorders. Berlin: Springer Verlag 2005;1084.
25. Zhu Z., Yao J., Johns T. et al. SURF1, encoding a factor involved in the biogenesis of cytochrome-c oxidase, is mutated in Leigh syndrome. Nature Genet 1998;20:337-343.