title: Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
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.
authors.affiliation: Molecular Medicine & Neurology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Cannelli
authors.forename: N
authors.initials: N
authors.lastname: Nardocci
authors.forename: D
authors.initials: D
authors.lastname: Cassandrini
authors.forename: M
authors.initials: M
authors.lastname: Morbin
authors.forename: C
authors.initials: C
authors.lastname: Aiello
authors.forename: M
authors.initials: M
authors.lastname: Bugiani
authors.forename: L
authors.initials: L
authors.lastname: Criscuolo
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: P
authors.initials: P
authors.lastname: Striano
authors.forename: T
authors.initials: T
authors.lastname: Granata
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A
authors.initials: A
authors.lastname: Simonati
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000293:Adolescent; D002648:Child; D002653:Child Behavior Disorders / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007558:Italy; D007859:Learning Disabilities / Q000209:etiology* / Q000473:pathology; D051907:Lysosomal Membrane Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics* / Q000473:pathology / Q000523:psychology*
chemical_list: C113332:CLN5 protein, human; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins