caa a22 4500 445810866 CHVBK 20180317145211.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00415-010-5708-z doi (NATIONALLICENCE)springer-10.1007/s00415-010-5708-z Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor [Elektronische Daten] [Elena García-Martín, Carmen Martínez, Hortensia Alonso-Navarro, Julián Benito-León, Oswaldo Lorenzo-Betancor, Pau Pastor, Inmaculada Puertas, Lluisa Rubio, Tomás López-Alburquerque, José Agúndez, Félix Jiménez-Jiménez] Some clinical and experimental data suggest a possible role of gamma-aminobutyrate (GABA)-ergic mechanisms in the pathophysiology of essential tremor (ET), such as the improvement of ET with some GABAergic drugs and the development of an experimental model of ET in GABA A receptor alpha-1 knockout mice (postural and kinetic tremor and motor incoordination similar to human ET). To investigate the possible association between the GABA receptor subtype rho1, rho2, and rho3 (GABRR1, GABRR2, and GABRR3) genotypes and allelic variants of the single nucleotide polymorphisms GABRR1-M26V (Met26Val, rs12200969), GABRR1-H27R (His26Arg, rs1186902), GABRR2-T455M (Thr55Met, rs282129), and GABRR3-Y205X (Tyr205X, rs832032), and the risk for ET, we studied the frequency of the previously mentioned GABRR genotypes and allelic variants in 200 patients with ET and 250 healthy controls using TaqMan genotyping. The frequencies of the GABBR1 genotypes and allelic variants of the studied polymorphisms did not differ significantly between patients with ET and controls, and were unrelated with the age at onset of tremor, gender, localization of tremor, and response of tremor to ethanol. These data suggest that the single nucleotide polymorphisms studied in the GABBR genes are not related to the risk for ET. Springer-Verlag, 2010 Essential tremor nationallicence Genetics nationallicence GABA receptor Rho nationallicence GABRR polymorphisms nationallicence Risk factors nationallicence García-Martín Elena Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain aut Martínez Carmen Department of Pharmacology and Psychiatry, University of Extremadura, Badajoz, Spain aut Alonso-Navarro Hortensia Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut Benito-León Julián Servicio de Neurología, Hospital Doce de Octubre, Madrid, Spain aut Lorenzo-Betancor Oswaldo Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain aut Pastor Pau CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain aut Puertas Inmaculada Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut Rubio Lluisa Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut López-Alburquerque Tomás Service of Neurology, Hospital Universitario de Salamanca, Salamanca, Spain aut Agúndez José Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain aut Jiménez-Jiménez Félix Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut Journal of Neurology Springer-Verlag 258/2(2011-02-01), 203-211 0340-5354 258:2<203 2011 258 415 https://doi.org/10.1007/s00415-010-5708-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-010-5708-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- García-Martín Elena Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain aut NATIONALLICENCE 700 1- Martínez Carmen Department of Pharmacology and Psychiatry, University of Extremadura, Badajoz, Spain aut NATIONALLICENCE 700 1- Alonso-Navarro Hortensia Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut NATIONALLICENCE 700 1- Benito-León Julián Servicio de Neurología, Hospital Doce de Octubre, Madrid, Spain aut NATIONALLICENCE 700 1- Lorenzo-Betancor Oswaldo Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain aut NATIONALLICENCE 700 1- Pastor Pau CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain aut NATIONALLICENCE 700 1- Puertas Inmaculada Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut NATIONALLICENCE 700 1- Rubio Lluisa Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut NATIONALLICENCE 700 1- López-Alburquerque Tomás Service of Neurology, Hospital Universitario de Salamanca, Salamanca, Spain aut NATIONALLICENCE 700 1- Agúndez José Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain aut NATIONALLICENCE 700 1- Jiménez-Jiménez Félix Department of Medicine-Neurology, Hospital "Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/2(2011-02-01), 203-211 0340-5354 258:2<203 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer