Linked Life Data

17607606

Source:http://linkedlifedata.com/resource/pubmed/id/17607606

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-7-3
pubmed:abstractText
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.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0174-304X
pubmed:author
pubmed:issnType
Print
pubmed:volume
38
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
46-9
pubmed:dateRevised
2008-1-16
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
pubmed:affiliation
Molecular Medicine & Neurology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't