Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis
Copyright policy )Revelation of a Novel CLN5 Mutation in Early Juvenile Neuronal Ceroid Lipofuscinosis
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.
- Istituto Giannina Gaslini Italy
- Boston Children's Hospital United States
- University of Genoa Italy
- Bambino Gesù Children's Hospital Italy
- University of Verona Italy
Male, Adolescent, Learning Disabilities, Mutation, Missense, Membrane Proteins, Adolescent, Child, Child Behavior Disorders; etiology/pathology, Humans, Italy, Learning Disorders; etiology/pathology, Male, Membrane Proteins; genetics, Mutation; Missense; genetics, Neuronal Ceroid-Lipofuscinoses; genetics/pathology/psychology, Child Behavior Disorders, Lysosomal Membrane Proteins, Italy, Neuronal Ceroid-Lipofuscinoses, Humans, Child
Male, Adolescent, Learning Disabilities, Mutation, Missense, Membrane Proteins, Adolescent, Child, Child Behavior Disorders; etiology/pathology, Humans, Italy, Learning Disorders; etiology/pathology, Male, Membrane Proteins; genetics, Mutation; Missense; genetics, Neuronal Ceroid-Lipofuscinoses; genetics/pathology/psychology, Child Behavior Disorders, Lysosomal Membrane Proteins, Italy, Neuronal Ceroid-Lipofuscinoses, Humans, Child
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).42 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!