RT Journal Article SR Electronic T1 Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings JF American Journal of Neuroradiology JO Am. J. Neuroradiol. FD American Society of Neuroradiology SP 1188 OP 1191 VO 24 IS 6 A1 Andrea Rossi A1 Roberta Biancheri A1 Claudio Bruno A1 Maja Di Rocco A1 Angela Calvi A1 Alice Pessagno A1 Paolo Tortori-Donati YR 2003 UL http://www.ajnr.org/content/24/6/1188.abstract AB Summary: 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.