Abstract
The neuronal ceroid-lipofuscinoses (NCL) are a group of progressive encephalopathies with a fatal course that are mostly of autosomal recessive inheritance. The pathophysiological mechanisms causing the diseases are not known. The characteristic histomorphological feature of the NCL is an abnormal lysosomal accumulation of lipopigments in neural and extraneural cells, including peripheral blood leukocytes. We studied the function of peripheral venous blood immunocompetent cells in ten patients with NCL and in age- and sex-matched controls to determine how, if at all, the accumulation of intracytoplasmic storage material influences the functional capacity of affected tissue. Our results did not reveal any functional impairment of affected cells, but rather suggested a higher turnover rate in NCL. Apoptosis was increased, suggesting that abnormally controlled programmed cell death might play an important role in the pathogenesis of NCL.
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