Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings

Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1188-1191
Number of pages4
JournalAmerican Journal of Neuroradiology
Volume24
Issue number6
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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