Neuronal ceroid lipofuscinosis in The Netherlands-II.
This paper is a report on Neuronal Ceroid Lipofuscinosis (NCL) in The Netherlands (synonyms: Batten disease, Jansky-Bielschowsky disease, Batten-Mayou disease, Stock-Spielmeyer-Vogt disease). Discussed are the late infantile type with predominant accumulation of lipofuscin in the form of curvilinear bodies (Jansky-Bielschowsky) and the juvenile type with accumulation of lipofuscin in the form of fingerprint- and rectilinear profiles (Batten-Mayou disease and Stock-Spielmeyer-Vogt disease or F-type of NCL).
D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009426:Netherlands; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis