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

N. Cannelli, N. Nardocci, D. Cassandrini, M. Morbin, C. Aiello, M. Bugiani, L. Criscuolo, F. Zara, P. Striano, T. Granata, E. Bertini, A. Simonati, F. M. Santorelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)46-49
Number of pages4
JournalNeuropediatrics
Volume38
Issue number1
DOIs
Publication statusPublished - Feb 2007

Keywords

  • CLN5 gene
  • Mutation
  • Neuronal ceroid lipofuscinoses
  • Scandanavia
  • Storage disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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