Linked Life Data

16366515

Source:http://linkedlifedata.com/resource/pubmed/id/16366515

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2005-12-21
pubmed:abstractText
Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism. It provides a unique opportunity to explore the anatomical basis of dystonia, because it has discernible pathological changes even at its early phase of dystonia. After extensive searches for the anatomical basis in XDP, we found selective loss of striosomal neurons in the striatum in dystonic patients' brain. Because striosomal neurons inhibit nigrostriatal dopaminergic neurons via GABAergic innervation, the striosomal lesion could account for dopamine excess in the striatum, which in turn causes a hyperkinetic state or dystonia. We also identified the causative gene as one of the general transcription factor genes, TAF1. XDP has certain similarities to Huntington disease not only in pathological and clinical findings, but also the molecular mechanism, which disturbs expression of genes essential for striatal neurons, such as DRD2. Therapeutic intervention may become possible through pharmacological measures that affect gene expression.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1343-1420
pubmed:author
pubmed:issnType
Print
pubmed:volume
52 Suppl
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
280-3
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).
pubmed:affiliation
Department of Clinical Neuroscience, Institute of Health Biosciences, The University of Tokushima,Graduate School, Japan.
pubmed:publicationType
Journal Article