Send to

Choose Destination
Neuropediatrics. 2007 Feb;38(1):46-9.

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Author information

Molecular Medicine & Neurology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.


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 impairment has been described in a single family. We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset.

Comment in

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Georg Thieme Verlag Stuttgart, New York
Loading ...
Support Center