Literature DB >> 11781417

A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.

A Misbahuddin1, M R Placzek, K R Chaudhuri, N W Wood, K P Bhatia, T T Warner.   

Abstract

Abnormalities in dopamine neurotransmission are thought to underlie the generation of dystonic movements. The authors performed a case-control allelic association study in patients with the focal dystonia blepharospasm, using polymorphisms in the dopamine receptor and transporter genes. Allele 2 of a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for this receptor.

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Year:  2002        PMID: 11781417     DOI: 10.1212/wnl.58.1.124

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  16 in total

1.  BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm.

Authors:  Vasileios Siokas; Dimitrios Kardaras; Athina-Maria Aloizou; Ioannis Asproudis; Konstadinos G Boboridis; Eleni Papageorgiou; Georgios M Hadjigeorgiou; Evangelia E Tsironi; Efthimios Dardiotis
Journal:  Neuromolecular Med       Date:  2018-12-05       Impact factor: 3.843

Review 2.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

3.  Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.

Authors:  Subhajit Giri; Arunibha Ghosh; Shubhrajit Roy; Charulata Savant Sankhla; Shyamal Kumar Das; Kunal Ray; Jharna Ray
Journal:  J Mol Neurosci       Date:  2020-07-13       Impact factor: 3.444

4.  Lack of Association of the rs11655081 ARSG Gene with Blepharospasm.

Authors:  Vasileios Siokas; Dimitrios Kardaras; Athina-Maria Aloizou; Ioannis Asproudis; Konstadinos G Boboridis; Eleni Papageorgiou; Demetrios A Spandidos; Aristidis Tsatsakis; Evangelia E Tsironi; Efthimios Dardiotis
Journal:  J Mol Neurosci       Date:  2019-01-18       Impact factor: 3.444

Review 5.  Molecular pathways in dystonia.

Authors:  D Cristopher Bragg; Ioanna A Armata; Flavia C Nery; Xandra O Breakefield; Nutan Sharma
Journal:  Neurobiol Dis       Date:  2010-12-04       Impact factor: 5.996

Review 6.  Animal models of focal dystonia.

Authors:  Craig Evinger
Journal:  NeuroRx       Date:  2005-07

7.  SNP discovery and haplotype analysis in the segmentally duplicated DRD5 coding region.

Authors:  Donna J E Housley; Molly Nikolas; Patrick J Venta; Kathrine A Jernigan; Irwin D Waldman; Joel T Nigg; Karen H Friderici
Journal:  Ann Hum Genet       Date:  2009-03-30       Impact factor: 1.670

Review 8.  Emerging common molecular pathways for primary dystonia.

Authors:  Mark S Ledoux; William T Dauer; Thomas T Warner
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

Review 9.  Convergent evidence for abnormal striatal synaptic plasticity in dystonia.

Authors:  David A Peterson; Terrence J Sejnowski; Howard Poizner
Journal:  Neurobiol Dis       Date:  2009-12-18       Impact factor: 5.996

10.  Animal models for investigating benign essential blepharospasm.

Authors:  Craig Evinger
Journal:  Curr Neuropharmacol       Date:  2013-01       Impact factor: 7.363

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