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PT  - JOURNAL ARTICLE
AU  - Rossi, Andrea
AU  - Biancheri, Roberta
AU  - Bruno, Claudio
AU  - Di Rocco, Maja
AU  - Calvi, Angela
AU  - Pessagno, Alice
AU  - Tortori-Donati, Paolo
TI  - Leigh Syndrome with COX Deficiency and &lt;em&gt;SURF1&lt;/em&gt; 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.