[Ceroid-lipofuscinosis: recent notions].
Neuronal ceroid lipofuscinoses (NCL) are among the most frequent neurodegenerative diseases. They have an autosomal recessive mode of inheritance. Four different forms (infantile, late infantile, juvenile and adult NCL) have been identified from clinical (epilepsy, microcephaly, psychomotor delay, visual defect, pyramidal or extrapyramidal disorders), neurophysiological (EEG, visual evoked potential), neuroimaging (brain and cerebellum atrophy), morphological and genetic criteria. The genes of both infantile and juvenile NCL have been identified, that of the late infantile form variant has been located. An early management (antiepileptic drugs, nursing) is required.
Chabrol
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Service de neurologie pédiatrique, hôpital d'enfants de la Timone, Marseille, France.
D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009472:Neuronal Ceroid-Lipofuscinoses / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy