SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old

Jeremy Timothy, Thomas Geller

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Mutations in the nuclear SURF-1 gene lead directly to cytochrome-c oxidase deficiency, the most common respiratory chain defect in Leigh syndrome, a neurodegenerative mitochondrial disease involving the deep gray matter and brain stem. We describe the second documented case in the literature to have a SURF-1 mutation presenting with diffuse leukodystrophy, adding to the growing number of cases of mitochondrial syndromes presenting with white matter disease. We examine magnetic resonance imaging (MRI) findings, which suggest that high-grade cytotoxic edema on diffusion-weighted imaging may be a helpful diagnostic feature in differentiating mitochondrial leukodystrophy from other, more common leukodystrophies. We show how MRI white matter findings may progress to include the brain stem, suggesting that a leukodystrophy due to respiratory chain defects can precede more classic Leigh syndrome deep gray matter radiographic findings.

Original languageEnglish (US)
Pages (from-to)1296-1301
Number of pages6
JournalJournal of child neurology
Issue number10
StatePublished - 2009
Externally publishedYes


  • Diffusion weighted imaging
  • Leigh syndrome
  • Leukoencephalopathy
  • Mitochondrial disorder
  • SURF-1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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