Linked Life Data

18590615

Source:http://linkedlifedata.com/resource/pubmed/id/18590615

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2008-7-1
pubmed:abstractText
This article provides an overview of recent advances in the field of inherited ataxias. In the past few years, new causative mutations that broaden the diagnostic spectrum of ataxias have been described. In addition, important advances have unveiled the molecular pathology of these disorders, resulting in a classification based on the pathogenetic pathways rather than clinical or genetic features. As concepts of treatment principles emerge, debate continues as to whether such concepts might be applicable to more than one genetically defined disorder or whether each ataxia disorder requires its own unique therapeutic approach. New clinical assessment instruments have been developed that will facilitate future interventional trials. A recent phase 2 clinical trial suggested a positive effect of high-dose idebenone in Friedreich's ataxia, raising hopes that a treatment option will soon be available for this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1534-6293
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
310-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
An update on inherited ataxias.
pubmed:affiliation
Department of Neurology, University Clinic Bonn, Bonn, Germany.
pubmed:publicationType
Journal Article, Review