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DOI: 10.1055/s-2007-981449
© Georg Thieme Verlag KG Stuttgart · New York
Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis
Publication History
received 9.11.2006
accepted 24.4.2007
Publication Date:
02 July 2007 (online)
Abstract
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.
Key words
Neuronal ceroid lipofuscinoses - CLN5 gene - storage disease - Scandanavia - mutation
References
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Correspondence
F. M. SantorelliMD
Molecular Medicine · IRCCS
Bambino Gesù Children's Hospital
Piazza S. Onofrio 4
00165 Rome
Italy
Phone: +39/06/6859 21 05
Fax: +39/06/685920 24
Email: fms3@na.flashnet.it