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Revelation of a Novel <i>CLN5</i> Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis

1 Feb 2007

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are relatively common storage diseases of childhood and early adolescence. Ultrastructural shape of storage cytosomes, type of disease gene, and age of onset serve to classify the different NCLs, some of which appear to cluster in Scandinavian countries. The CLN5 form usually presents as a classical epileptiform encephalopathy of late infancy but a more aggressive cognitive...

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Identifiers

PMID: 17607606
DOI: 10.1055/s-2007-981449

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