Abstract
In a recent article, Wei et al. reported about a retrospective analysis of 16 patients with late-onset (>2y) Leigh syndrome (LS) [1]. We have the following comments and concerns.
Inclusion criterion 4 is inconclusive [1]. It is not justified to diagnose an abnormal energy metabolism by the presence of an mtDNA mutation. Abnormal energy metabolism can be confirmed only by measuring activities of respiratory chain complexes in the muscle homogenate. How many of the patients undergoing muscle biopsy also had biochemical investigations of respiratory chain complex activities? In how many of the patients undergoing biopsy was polarography carried out? Since 13/16 patients had a mutation in subunits of complex-I, we can expect reduced activity of complex-I on biochemical investigations
It is contradictory to define bilaterally symmetric lesions of the basal ganglia (BG) as inclusion criterion [1] and to include three patients in whom the putamen was only unilaterally involved. How to explain this contradiction?