Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2005-9-26
pubmed:abstractText
A G309D mutation in the PINK1 gene in a consanguineous Spanish kindred with seven siblings, three of whom are clinically affected, has recently been shown to be a cause of the PARK6 form of autosomal-recessive Parkinson's syndrome. In this family, we studied pre- and postsynaptic dopaminergic function using 123I-FP-CIT- and 123I-iodobenzamide-SPECT to determine binding to the presynaptic dopamine transporter (DAT) and postsynaptic D2 receptors respectively. All three PARK6 patients showed reduced striatal DAT binding with posterior preponderance similar to sporadic idiopathic PD, but only one patient showed significant striatal asymmetry. In two of the siblings, DAT binding was markedly increased. IBZM-SPECT was normal in both patients and sibs. Our findings indicate that 123I-FP-CIT-SPECT shows similar DAT binding in PARK6 patients compared to idiopathic Parkinson's disease. The increased DAT binding in heterozygous PARK6 carriers may be a new very early preclinical finding, but its significance is still unclear.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/2-carbomethoxy-8-(3-fluoropropyl)-3-..., http://linkedlifedata.com/resource/pubmed/chemical/3-iodo-2-hydroxy-6-methoxy-N-((1-eth..., http://linkedlifedata.com/resource/pubmed/chemical/Benzamides, http://linkedlifedata.com/resource/pubmed/chemical/Carbon Radioisotopes, http://linkedlifedata.com/resource/pubmed/chemical/Dopamine Antagonists, http://linkedlifedata.com/resource/pubmed/chemical/Dopamine Plasma Membrane Transport..., http://linkedlifedata.com/resource/pubmed/chemical/Iodine Radioisotopes, http://linkedlifedata.com/resource/pubmed/chemical/PTEN-induced putative kinase, http://linkedlifedata.com/resource/pubmed/chemical/Protein Kinases, http://linkedlifedata.com/resource/pubmed/chemical/Pyrrolidines, http://linkedlifedata.com/resource/pubmed/chemical/Tropanes
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0300-9564
pubmed:author
pubmed:issnType
Print
pubmed:volume
112
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1345-53
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:15785866-Adult, pubmed-meshheading:15785866-Benzamides, pubmed-meshheading:15785866-Carbon Radioisotopes, pubmed-meshheading:15785866-Corpus Striatum, pubmed-meshheading:15785866-Dopamine, pubmed-meshheading:15785866-Dopamine Antagonists, pubmed-meshheading:15785866-Dopamine Plasma Membrane Transport Proteins, pubmed-meshheading:15785866-Family Health, pubmed-meshheading:15785866-Female, pubmed-meshheading:15785866-Genes, Recessive, pubmed-meshheading:15785866-Humans, pubmed-meshheading:15785866-Iodine Radioisotopes, pubmed-meshheading:15785866-Male, pubmed-meshheading:15785866-Middle Aged, pubmed-meshheading:15785866-Parkinson Disease, pubmed-meshheading:15785866-Protein Kinases, pubmed-meshheading:15785866-Pyrrolidines, pubmed-meshheading:15785866-Siblings, pubmed-meshheading:15785866-Substantia Nigra, pubmed-meshheading:15785866-Tomography, Emission-Computed, Single-Photon, pubmed-meshheading:15785866-Tropanes
pubmed:year
2005
pubmed:articleTitle
Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome.
pubmed:affiliation
Department of Neurology, J.W. Goethe University, Frankfurt/Main, Germany.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't