Abstract
SURF1 gene mutations are the most common cause of Leigh syndrome (LS), a rare progressive neurodegenerative disorder of infancy, characterized by symmetric necrotizing lesions and hypervascularity in the brainstem and basal ganglia, leading to death before the age of 4 years. Most of the reported mutations create premature termination codons, whereas missense mutations are rare.
The aim of the study was to characterize the natural history of LS patients carrying at least one missense mutation in the SURF1 gene. Nineteen such patients were compared with a reference group of 20 own c.845_846delCT homozygous patients, and with other LS(SURF-).
The presence of a missense mutation in the SURF1 gene may correlate with a milder course and longer survival of Leigh patients, normal MRI findings, normal blood lactate value, and only mild decrease of cytochrome c oxidase activity are not sufficient reasons to forego SURF1 mutation analysis in differential diagnosis