Research ArticlePEDIATRICS
MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations
Laura Farina, Luisa Chiapparini, Graziella Uziel, Marianna Bugiani, Massimo Zeviani and Mario Savoiardo
American Journal of Neuroradiology August 2002, 23 (7) 1095-1100;
Laura Farina
Luisa Chiapparini
Graziella Uziel
Marianna Bugiani
Massimo Zeviani
References
- ↵Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216–221
- ↵Di Mauro S, Bonilla E, DeVivo DC. Does the patient have a mitochondrial encephalomyopathy? J Child Neurol 1999;14:S23–S35
- ↵Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993;14:1119–1137
- ↵Medina L, Chi TL, De Vivo DC, Hilal SK. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. AJNR Am J Neuroradiol 1990;11:379–384
- ↵
- ↵Savoiardo M, Ciceri E, D’Incerti L, Uziel G, Scotti G. Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive mark of Leigh disease with COX deficiency. AJNR Am J Neuroradiol 1995;16:1746–1747
- ↵Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998;19:369–377
- ↵Tiranti V, Hoertnagel K, Carrozzo R, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998;63:1609–1621
- ↵Tiranti V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999;46:161–166
- ↵De Stefano N, Matthews PM, DPhil B, et al. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 1995;45:1193–1198
- ↵Tiranti V, Munaro M, Sandonà D, et al. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh’s syndrome: genetic evidence based on patient’s-derived rho° transformants. Hum Mol Genet 1995;4:2017–2023
- ↵Montpetit VJA, Andermann F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Giberson HR. Subacute necrotizing encephalomyelopathy: a review and a study of two families. Brain 1971;94:1–30
- ↵Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol 2000;21:1502–1509
- ↵Narita T, Yamano T, Ohno M, Takano T, Ito R, Shimada M. Hypertension in Leigh syndrome: a case report. Neuropediatrics 1998;29:265–267
- ↵Shen WC, Chiu HH, Chow KC, Tsai CH. MR imaging findings of enteroviral encephalomyelitis: an outbreak in Taiwan. AJNR Am J Neuroradiol 1999;20:1889–1895
- Kriegstein AR, Shungu DC, Millar WS, et al. Leukoencephalopathy and raised brain lactate from heroin vapor inhalation (“chasing the dragon”). Neurology 1999;53:1765–1773
- ↵Tan TP, Algra PR, Valk J, Wolters EC. Toxic leukoencephalopathy after inhalation of poisoned heroin: MR findings. AJNR Am J Neuroradiol 1994;15:175–178
- ↵Provenzale JM, Schwarzschild MA. Radiologic-clinical correlation: hemiballismus. AJNR Am J Neuroradiol 1994;15:1377–1382
- ↵Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. Hum Genet 1999;105:560–563
- ↵Sue CM, Karadimas C, Checcarelli N, et al. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann Neurol 2000;47:589–595
- ↵Santoro L, Carrozzo R, Malandrini A, et al. A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency. Neuromuscular Disorder 2000;10:450–453
- ↵Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 2001;49:797–800
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MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations
Laura Farina, Luisa Chiapparini, Graziella Uziel, Marianna Bugiani, Massimo Zeviani, Mario Savoiardo
American Journal of Neuroradiology Aug 2002, 23 (7) 1095-1100;
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