Linked Life Data

11371752

Source:http://linkedlifedata.com/resource/pubmed/id/11371752

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-5-23
pubmed:abstractText
The combined application of recently developed techniques for genetic and biochemical analysis, neuroimaging and the ability to create animal models has led to remarkable advances in the field of leukodystrophy research. The present review focuses on recent developments in X-linked adrenoleukodystrophy, Alexanders disease, Canavans disease, metachromatic leukodystrophy, globoid cell leukodystrophy (Krabbes disease) and Pelizaeus-Merzbacher disease, and briefly discusses new data on six other rare inherited leukodystrophies. Of the leukodystrophies, 12 can now be diagnosed precisely using noninvasive techniques, and the molecular defect has been identified in nine of these. Disease incidence can be reduced through genetic counselling. Presymptomatic diagnosis provides an opportunity for therapeutic intervention. Study of animal models facilitates elucidation of pathogenic mechanisms and identifies pathways that could be targeted by future therapies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1350-7540
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
305-12
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment.
pubmed:affiliation
Brain Research Institute, Division of Neuroimmunology, University of Vienna, Vienna, Austria. johannes.berger@univie.ac.at
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't