RT Journal Article
SR Electronic
T1 Leigh Syndrome with COX Deficiency and <em>SURF1</em> 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 Rossi, Andrea
A1 Biancheri, Roberta
A1 Bruno, Claudio
A1 Di Rocco, Maja
A1 Calvi, Angela
A1 Pessagno, Alice
A1 Tortori-Donati, Paolo
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.