Linked Life Data

650259

Source:http://linkedlifedata.com/resource/pubmed/id/650259

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1978-7-24
pubmed:abstractText
In most cases where rectal biopsy is performed to diagnose Batten's disease, there is good correlation between biopsy appearance, age of onset, clinical course and electrophysiological parameters. As a result 3 forms of the disease have been recognised; infantile, late infantile and juvenile. In a review of rectal biopsy in Batten's disease at the Hospital for Sick Children, Great Ormond Street, we have studied the few cases in which no such correlation appeared to exist. In 5 the features are sufficiently similar to suggest a further recognisable sub-group which could be descriptively called "early juvenile". The clinical course, electrophysiological features and the absence of vacuolated lymphocytes in this subgroup are as found in the late infantile form, whereas the biopsy findings are identical to those of the juvenile form. By analogy with some of the mucopolysaccharidoses we speculate that the genes of the late infantile and juvenile forms of Batten's disease are allelic and that the "early juvenile" sub-group is a genetic compound presenting as an intermediate phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0022-510X
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
265-71
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients.
pubmed:publicationType
Journal Article