Axonal enlargements (meganeurites) in neuronal ceroid lipofuscinosis (NCL).
Meganeurites have been described by light and electron microscopy in several neuronal lipid storage diseases. In neuronal ceroid lipofuscinosis (NCL), they appear to be less frequent. We present the first combined Golgi-electron microscopy study of a patient with NCL, which shows that the axons from neurons with meganeurites arise from their distal poles. Our results reinforce the assumption that neuronal malfunction in this disorder, as in other neuronal storage diseases, is also due to the presence of such meganeurites in the area of the axon hillock-initial axon segment.
D001369:Axons / Q000648:ultrastructure*; D002540:Cerebral Cortex / Q000648:ultrastructure*; D002648:Child; D006801:Humans; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*; D013194:Staining and Labeling