Neuronal ceroid-lipofuscinoses in childhood.
Neuronal Childhood types of ceroid-lipofuscinoses (NCL) are reviewed. All three main types, infantile, late infantile and juvenile, are progressive encephalopathies characterized by neural and extraneural accumulation of ceroid- and lipofuscin like storage cytosomes. The pathogenesis of NCL is unknown. A disturbance of the peroxidation of polyunsaturated fatty acids and a defect in the processing and turn-over of the glycoproteins in the lysosomal membrane are those hypotheses which have been most widely investigated. Reduced membrane lipids and reduced membrane fluidity have recently been detected. Prenatal diagnosis, based on the characteristic ultrastructural findings, is possible in all types.
Santavuori
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Children's Hospital, University of Helsinki, Finland.
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification* / Q000401:mortality / Q000503:physiopathology