Back to Search
Start Over
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis
- Source :
- Neuropediatrics. 38(1)
- Publication Year :
- 2007
-
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.
- Subjects :
- Male
Adolescent
Early juvenile
Encephalopathy
Mutation, Missense
Child Behavior Disorders
Biology
Epilepsy
Neuronal Ceroid-Lipofuscinoses
Learning Disorders
medicine
Humans
genetics
Child
etiology/pathology
Mental deterioration
Learning Disabilities
genetics/pathology/psychology
Lysosome-Associated Membrane Glycoproteins
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
General Medicine
medicine.disease
Italy
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Mutation
Neuronal ceroid lipofuscinosis
Neurology (clinical)
Age of onset
Neuroscience
Subjects
Details
- ISSN :
- 0174304X
- Volume :
- 38
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Neuropediatrics
- Accession number :
- edsair.doi.dedup.....fb5fc940e4fc15d856200095104b5d98