PT - JOURNAL ARTICLE AU - Andrea Rossi AU - Roberta Biancheri AU - Claudio Bruno AU - Maja Di Rocco AU - Angela Calvi AU - Alice Pessagno AU - Paolo Tortori-Donati TI - Leigh Syndrome with COX Deficiency and <em>SURF1</em> Gene Mutations: MR Imaging Findings DP - 2003 Jun 01 TA - American Journal of Neuroradiology PG - 1188--1191 VI - 24 IP - 6 4099 - http://www.ajnr.org/content/24/6/1188.short 4100 - http://www.ajnr.org/content/24/6/1188.full SO - Am. J. Neuroradiol.2003 Jun 01; 24 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.