Linked Life Data

20454901

Source:http://linkedlifedata.com/resource/pubmed/id/20454901

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2010-7-14
pubmed:abstractText
Neuronal ceroid lipofuscinoses (NCL) are a heterogeneous group of neurodegenerative diseases with mostly autosomal recessive inheritance whose common feature is the intralysosomal accumulation of ceroid lipofuscin. With varying manifestation ages the diseases result in cognitive and motor deterioration, epilepsy, diffuse retinal degeneration, and eventually death. Juvenile ceroid lipofuscinosis (JNCL, CLN3, Batten disease) has the distinctive feature that the ophthalmologic symptoms precede the neurologic symptoms by several years, and thus the ophthalmologist plays a central role in early diagnosis. Important clinical signs of JNCL include bull's eye maculopathy, severely reduced Ganzfeld ERG already at initial presentation, and unusually rapid progression of the functional decline. If JNCL is clinically suspected the diagnosis can be made by means of a standard blood smear and confirmed by genetic detection of the mutation. Although causal therapeutic options are currently only in the developmental stage, early diagnosis by the ophthalmologist is of utmost importance to allow for medical and educational support of the affected child and for adequate counseling of the parents.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1433-0423
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
107
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
606-11
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
[Juvenile neuronal ceroid lipofuscinosis. Ophthalmologic findings and differential diagnosis].
pubmed:affiliation
Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. krohne@scripps.edu
pubmed:publicationType
Journal Article, English Abstract