title: Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
abstract: Mutations in the nuclear SURF1 gene are specifically associated with cytochrome c oxidase (COX)-deficient Leigh syndrome. MR imaging abnormalities in three children with this condition involved the subthalamic nuclei, medulla, inferior cerebellar peduncles, and substantia nigra in all cases. The dentate nuclei and central tegmental tracts were involved in two cases each (all instances), and the putamina, interpeduncular nucleus, and pallido-cortical-nigro-cortical tracts in one. MR imaging pattern recognition can suggest an underlying COX deficiency and should prompt investigators to search for SURF1 gene mutations.
authors.affiliation: Department of Pediatric Neuroradiology, G. Gaslini Children's Research Hospital, Largo G. Gaslini 5, I-16147 Genoa, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Angela
authors.initials: A
authors.lastname: Calvi
authors.forename: Alice
authors.initials: A
authors.lastname: Pessagno
authors.forename: Paolo
authors.initials: P
authors.lastname: Tortori-Donati
mesh_terms: D020029:Base Pairing / Q000235:genetics; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D007888:Leigh Disease / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C092928:Surf-1 protein