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Journal of Neurology
Published in: Journal of Neurology 2/2011

01-02-2011 | Original Communication

Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor

Authors: Elena García-Martín, Carmen Martínez, Hortensia Alonso-Navarro, Julián Benito-León, Oswaldo Lorenzo-Betancor, Pau Pastor, Inmaculada Puertas, Lluisa Rubio, Tomás López-Alburquerque, José A. G. Agúndez, Félix Javier Jiménez-Jiménez

Published in: Journal of Neurology | Issue 2/2011

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Abstract

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.
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Metadata
Title
Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor
Authors
Elena García-Martín
Carmen Martínez
Hortensia Alonso-Navarro
Julián Benito-León
Oswaldo Lorenzo-Betancor
Pau Pastor
Inmaculada Puertas
Lluisa Rubio
Tomás López-Alburquerque
José A. G. Agúndez
Félix Javier Jiménez-Jiménez
Publication date
01-02-2011
Publisher
Springer-Verlag
Published in
Journal of Neurology / Issue 2/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-010-5708-z

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