title: MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.
abstract: OBJECTIVE
  In a large number of patients with Leigh syndrome (LS) and cytochrome c oxidase (COX) deficiency, mutations of the SURF-1 gene were recently identified. The aim of the present study was to review the MR findings in patients with LS to verify if the genetically homogeneous patients with LS and SURF-1 mutations (LS SURF-1 patients) had a homogeneous MR pattern that could be used to differentiate them from other patients with LS (LS non-SURF-1 patients).
  
  
  METHODS
  T1-, proton density-, and T2-weighted MR images of eight LS SURF-1 patients and 14 LS non-SURF-1 patients were reviewed. Enzymatic activity was determined according to standard methods. Genetic analysis was mostly performed by using stored DNA samples.
  
  
  RESULTS
  All LS SURF-1 patients had lesions in the brain stem and subthalamic nuclei. Six had lesions in the cerebellum. Only two had basal ganglial abnormalities. Ten LS non-SURF-1 patients had lesions in the brain stem, but in six they were mild. Ten patients had basal ganglial abnormalities (nine of 10 in the putamina). LS-SURF-1 patients had a more severe clinical course.
  
  
  CONCLUSIONS
  The MR pattern in LS SURF-1 patients is characteristic. Brain stem and subthalamic nuclei lesions may suggest the specific diagnosis. These patients die soon, probably because of lower brain stem involvement. Basal ganglial abnormalities are common only in LS non-SURF-1 patients. The absence of putaminal lesions, therefore, does not exclude the diagnosis of LS.
authors.affiliation: Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Farina
authors.forename: Luisa
authors.initials: L
authors.lastname: Chiapparini
authors.forename: Graziella
authors.initials: G
authors.lastname: Uziel
authors.forename: Marianna
authors.initials: M
authors.lastname: Bugiani
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Mario
authors.initials: M
authors.lastname: Savoiardo
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007229:Infant Welfare; D007558:Italy; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011859:Radiography; D012720:Severity of Illness Index; D013223:Statistics as Topic; D016019:Survival Analysis
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein