Normal superoxide radical production in the neuronal ceroid-lipofuscinoses

The neuronal ceroid-lipofuscinoses (NCL) are a group of inherited progressive encephalopathies. Striking histomorphological feature of the NCL is the accumulation of storage material within the lysosomes in neural and extraneural cells. The basic underlying defect causing the disease is not known. Presupposing a disturbance in lipid peroxidation, some authors recommend antioxidant treatment to slow down the progression of the disease. In this study, the superoxide radical production of polymorphonuclear leukocytes as one potential source of reactive oxygen species was measured in this disorder for the first time. No significant difference in this production between affected individuals and healthy controls could be detected. Our findings cast doubt on the therapeutic benefit of antioxidant treatment.