TY - JOUR T1 - Leigh Syndrome with COX Deficiency and <em>SURF1</em> Gene Mutations: MR Imaging Findings JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 1188 LP - 1191 VL - 24 IS - 6 AU - Andrea Rossi AU - Roberta Biancheri AU - Claudio Bruno AU - Maja Di Rocco AU - Angela Calvi AU - Alice Pessagno AU - Paolo Tortori-Donati Y1 - 2003/06/01 UR - http://www.ajnr.org/content/24/6/1188.abstract N2 - 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. ER -