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dc.contributor.authorRamos, Eliana Marisaen_US
dc.contributor.authorLatourelle, Jeanne C.en_US
dc.contributor.authorGillis, Tammyen_US
dc.contributor.authorMysore, Jayalakshmi S.en_US
dc.contributor.authorSquitieri, Ferdinandoen_US
dc.contributor.authorDi Pardo, Albaen_US
dc.contributor.authorDi Donato, Stefanoen_US
dc.contributor.authorGellera, Cinziaen_US
dc.contributor.authorHayden, Michael R.en_US
dc.contributor.authorMorrison, Patrick J.en_US
dc.contributor.authorNance, Marthaen_US
dc.contributor.authorRoss, Christopher A.en_US
dc.contributor.authorMargolis, Russell L.en_US
dc.contributor.authorGomez-Tortosa, Estrellaen_US
dc.contributor.authorAyuso, Carmenen_US
dc.contributor.authorSuchowersky, Oksanaen_US
dc.contributor.authorTrent, Ronald J.en_US
dc.contributor.authorMcCusker, Elizabethen_US
dc.contributor.authorNovelletto, Andreaen_US
dc.contributor.authorFrontali, Marinaen_US
dc.contributor.authorJones, Randien_US
dc.contributor.authorAshizawa, Tetsuoen_US
dc.contributor.authorFrank, Samuelen_US
dc.contributor.authorSaint-Hilaire, Marie-Heleneen_US
dc.contributor.authorHersch, Steven M.en_US
dc.contributor.authorRosas, Herminia D.en_US
dc.contributor.authorLucente, Dianeen_US
dc.contributor.authorHarrison, Madaline B.en_US
dc.contributor.authorZanko, Andreaen_US
dc.contributor.authorAbramson, Ruth K.en_US
dc.contributor.authorMarder, Karenen_US
dc.contributor.authorGusella, James F.en_US
dc.contributor.authorLee, Jong-Minen_US
dc.contributor.authorAlonso, Isabelen_US
dc.contributor.authorSequeiros, Jorgeen_US
dc.contributor.authorMyers, Richard H.en_US
dc.contributor.authorMacDonald, Marcy E.en_US
dc.date.accessioned2014-03-11T02:49:00Z
dc.date.issued2013en_US
dc.identifier.citationRamos, E. M., J. C. Latourelle, T. Gillis, J. S. Mysore, F. Squitieri, A. Di Pardo, S. Di Donato, et al. 2013. “Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset.” Neurogenetics 14 (1): 173-179. doi:10.1007/s10048-013-0364-y. http://dx.doi.org/10.1007/s10048-013-0364-y.en
dc.identifier.issn1364-6745en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:11879081
dc.description.abstractHuntington’s disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and behavioral disturbances. It is caused by the expansion of the HTT CAG repeat, which is the major determinant of age at onset (AO) of motor symptoms. Aberrant function of N-methyl-D-aspartate receptors and/or overexposure to dopamine has been suggested to cause significant neurotoxicity, contributing to HD pathogenesis. We used genetic association analysis in 1,628 HD patients to evaluate candidate polymorphisms in N-methyl-D-aspartate receptor subtype genes (GRIN2A rs4998386 and rs2650427, and GRIN2B rs1806201) and functional polymorphisms in genes in the dopamine pathway (DAT1 3′ UTR 40-bp variable number tandem repeat (VNTR), DRD4 exon 3 48-bp VNTR, DRD2 rs1800497, and COMT rs4608) as potential modifiers of the disease process. None of the seven polymorphisms tested was found to be associated with significant modification of motor AO, either in a dominant or additive model, after adjusting for ancestry. The results of this candidate-genetic study therefore do not provide strong evidence to support a modulatory role for these variations within glutamatergic and dopaminergic genes in the AO of HD motor manifestations.en
dc.language.isoen_USen
dc.publisherSpringer Berlin Heidelbergen
dc.relation.isversionofdoi:10.1007/s10048-013-0364-yen
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825533/pdf/en
dash.licenseLAAen_US
dc.subjectHuntington’s diseaseen
dc.subjectGlutamate receptorsen
dc.subjectDopamine pathwayen
dc.subjectGenetic modifiersen
dc.titleCandidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onseten
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNeurogeneticsen
dash.depositing.authorHersch, Steven M.en_US
dc.date.available2014-03-11T02:49:00Z
dc.identifier.doi10.1007/s10048-013-0364-y*
dash.authorsorderedfalse
dash.contributor.affiliatedGusella, James
dash.contributor.affiliatedHersch, Steven
dash.contributor.affiliatedMacDonald, Marcy
dash.contributor.affiliatedRosas, Herminia


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