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.
|Number of pages||4|
|Journal||American Journal of Neuroradiology|
|Publication status||Published - Jun 2003|
ASJC Scopus subject areas
- Clinical Neurology
- Radiology Nuclear Medicine and imaging
- Radiological and Ultrasound Technology