MRI findings in Leigh syndrome with SURF-1 gene 604G→C mutations
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF RADIOLOGY
- Issue:
- 12
- DOI:
- 10.3321/j.issn:1005-1201.2008.12.003
- Key Word:
- Leigh病;基因;突变;磁共振成像;Leigh disease;Gene;Mutation;Magnetic resonance imaging
Abstract： Objective To determine the MR phenotype of Leigh syndrome (IS) with SURF-1 gene mutation.Methods The cranial MR examination of eight patients with the diagnosis of Leigh syndrome associated with SURF-1 gene 604G→C mutations were reviewed retrospectively.Comparison was made with typical LS patients' MRI.Observation was made regarding lesions in basal ganglia,subthalamic nuclei,substantia nigra,and dentate nuclei,involvement of white matter,and brain atrophy.Results The MR findings of LS in the study included the following:3 cases exhibited involvement of brain stem and subthalamic nuclei,2 of these 3 cases also had basal ganglia abnormalities.3 cases showed abnormality in the white matter without any involvement of the deep nuclei.Cerebral atrophy was observed in all cases in the group,and was the only finding in two cases.Conclusion The imaging findings in LS with SURF-1 604G→C gene mutation were variable.
- [1]姜玉武,秦炯,戚豫,等.儿童Leigh综合征的临床、神经病理及分子遗传学研究[J].2001,(6).
- [2]孙芳,杨艳玲,戚豫,等.SURF1基因604G→C杂合性错义突变所致Leigh综合征患儿的临床与分子遗传学研究[J].2005,(9).
- [3]V. Tiranti,M. Jaksch,S. Hofmann,etc.Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome <em>c</em> oxidase deficiency[J].1999,46(2).
- [4]高富强,姜宗衡.老年人脑萎缩的CT定量研究[J].1990,024 (4).
- [5]Buchet K,Echenne B,Zabot MT,etc.Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.[J].2000,106(2).
- [6]S, Rahman,R M, Brown,W K, Chong,etc.A SURF1 gene mutation presenting as isolated leukodystrophy.[J].2001,49(6).
- [7]DiMauro S,Hirano M.Mitochondrial encephalomyopathies: an update.[J].2005,15(4).
- [8]Valeria Tiranti,Konstanze Hoertnagel,Rosalba Carrozzo,etc.Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency[J].1998,63(6).
- [9]Mario, Savoiardo,Massimo, Zeviani,Graziella, Uziel,etc.MRI in Leigh syndrome with SURF1 gene mutation.[J].2002,51(1).