Abstract
Juvenile neuronal ceroid lipofuscinosis (JNCL) is the most frequent neuronal ceroid lipofuscinosis (NCLs). It is a hereditary metabolic lysosomal neurodegenerative disease characterised by intracellular accumulation of autofluorescent material. Its heredity is autosomal recessive. It provokes a regression of visual, motor and cognitive functions with epilepsy and leads to early death.
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Defoort-Dhellemmes, S. (2014). Juvenile Neuronal Ceroid Lipofuscinoses (JNCL). In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_23
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DOI: https://doi.org/10.1007/978-3-540-69466-3_23
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