Linked Life Data

19409223

Source:http://linkedlifedata.com/resource/pubmed/id/19409223

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-10-12
pubmed:abstractText
Although Parkinson's disease (PD) has traditionally been considered to be a non-genetic disorder, recent progress in the neurogenetics of PD provided converging evidence that genetic factors play a relevant role in the etiology of PD. The strongest case for a genetic contribution to PD was made by the discovery of mutations in single genes that can cause autosomal dominant (alpha-synuclein (SNCA)) and leucine rich repeat kinase 2 (LRRK2) gene) or recessive (Parkin, PTEN-induced putative kinase 1 (PINK1), DJ-1, and ATP13A2 gene) forms of PD. Here, we review how structural and functional neuroimaging of individuals carrying a mutation in one of the PD genes has offered a unique avenue of research into the pathogenesis of PD. In symptomatic mutation carriers (i.e. those with overt disease), brain mapping can help to link the molecular pathogenesis of PD more directly with functional and structural changes in the intact human brain. In addition, neuroimaging of presymptomatic (i.e. non-manifesting) mutation carriers has emerged as a valuable tool to identify mechanisms of adaptive motor reorganization at the preclinical stage that may prevent or delay clinical manifestation. In addition to mutations causing monogenic forms of PD, common polymorphisms in genes that influence mono-aminergic signaling or synaptic plasticity may have modifying effects on distinct aspects of PD. We also discuss how functional and structural neuroimaging can be used to better characterize these genotype-phenotype correlations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1873-7544
pubmed:author
pubmed:issnType
Electronic
pubmed:day
24
pubmed:volume
164
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
191-204
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Imaging the impact of genes on Parkinson's disease.
pubmed:affiliation
Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't