The neurophysiological features of various diseases with NCL storage.
Combined EEG/ERG/VER studies were carried out on 47 children with verified neuronal storage of ceroid/lipofuscin-like material. The majority of patients fell into one of three main groups. Each group showed its own characteristic combination of neurophysiological features which were of diagnostic importance and closely parallel to the age of onset and the evolution of clinical symptoms characteristic to each group. These findings suggest that general terms such as "NCL" or "Batten's disease" imply a single disease process and are misleading.
D001921:Brain / Q000378:metabolism / Q000503:physiopathology*; D001927:Brain Diseases / Q000503:physiopathology*; D002566:Ceroid / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008052:Lipid Metabolism, Inborn Errors / Q000503:physiopathology*; D008062:Lipofuscin / Q000378:metabolism*; D009474:Neurons / Q000378:metabolism; D010860:Pigments, Biological / Q000378:metabolism*
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological