Content-Length: 374912 | pFad | https://link.springer.com/doi/10.1007/s00415-010-5708-z

86400 Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor | Journal of Neurology Skip to main content
Springer Nature Link
Log in

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

  • Original Communication
  • Published:
Journal of Neurology Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+
from $39.99 /Month
  • Starting from 10 chapters or articles per month
  • Access and download chapters and articles from more than 300k books and 2,500 journals
  • Cancel anytime
View plans

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Explore related subjects

Discover the latest articles, books and news in related subjects, suggested using machine learning.

References

  1. Agúndez JG, Golka K, Martínez C, Selinski S, Blaszkewicz M, García-Martín E (2008) Unraveling ambiguous NAT2 genotyping data. Clin Chem 54:1390–1394

    Article  PubMed  Google Scholar 

  2. Agúndez JA, Rodríguez I, Olivera M, Ladero JM, García MA, Ribera JM, Benítez J (1997) CYP2D6, NAT2 and CYP2E1 genetic polymorphisms in nonagenarians. Age Ageing 26:147–151

    Article  PubMed  Google Scholar 

  3. Alakuijala A, TalviOja K, Pasternack A, Pasternack M (2005) Functional characterization of rat rho2 subunits expressed in HEK 293 cells. Eur J Neurosci 21:692–700

    Article  PubMed  Google Scholar 

  4. Alonso-Navarro H, Benito-León J, Vázquez-Rodríguez A, Rubio LL, Jiménez-Jiménez FJ (2008) Temblor esencial. In: Jiménez-Jiménez FJ, Luquin MR, Molina JA, Linazasoro G (eds) Tratado de los trastornos del movimiento, 2nd edn. Viguera Editores S.L, Barcelona, pp 833–886. ISBN 978-84-85424-76-4

  5. Benito-León J, Bemejo-Pareja F, Morales JM, Vega S, Molina JA (2003) Prevalence of essential tremor in three elderly populations of Central Spain. Mov Disord 18:389–394

    Article  PubMed  Google Scholar 

  6. Boué-Grabot E, Roudbaraki M, Bascles L, Tramu G, Blocho B, Garret M (1998) Expression of GABA receptor rho subunits in rat brain. J Neurochem 70:899–907

    Article  PubMed  Google Scholar 

  7. Clark LN, Park N, Kisselev S, Rios E, Lee JH, Louis ED (2010) Replication of the LINGO1 gene association with essential tremor in a North American population. Eur J Hum Genet 18(7):838–843

    Article  CAS  PubMed  Google Scholar 

  8. Daly AK, Day CP (2001) Candidate gene case-control association studies: advantages and potential pitfalls. Br J Clin Pharmacol 52:489–499

    Article  CAS  PubMed  Google Scholar 

  9. Deng H, Xie WJ, Le WD, Huang MS, Jankovic J (2006) Genetic analysis of the GABRA1 gene in patients with essential tremor. Neurosci Lett 401:16–19

    Article  CAS  PubMed  Google Scholar 

  10. Deuschl G, Bain P, Brin M (1998) Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov Disord 13(Suppl 3):2–23

    PubMed  Google Scholar 

  11. Excoffier L, Laval G, Schneider S (2005) Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50

    CAS  PubMed  Google Scholar 

  12. GABA C receptors. Tocris Biosciences. http://www.tocris.com/pharmacologicalbrowser.php?ItemId=4793

  13. García-Martín E, Martínez C, Alonso-Navarro H, Benito-León J, Puertas I, Rubio L et al (2009) Dopamine receptor D3 (DRD3) allelic variants and risk for essential tremor. Mov Disord 24:1910–1915

    Article  PubMed  Google Scholar 

  14. Gironell A, Kulisevsky J, Barbanoj M, López Villegas D, Hernández G, Pascual-Sedano B (1999) A randomized placebo-controlled comparative trial of gabapentin and propranolol in essential tremor. Arch Neurol 56:475–480

    Article  CAS  PubMed  Google Scholar 

  15. Gulcher JR, Jónsson P, Kong A, Kristjánsson K, Frigge ML, Kárason A et al (1997) Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 17:84–87

    Article  CAS  PubMed  Google Scholar 

  16. Harvey VL, Duguid IC, Krasel C, Stephens GJ (2006) Evidence that GABA rho subunits contribute to functional ionotropic GABA receptors in mouse cerebellar Purkinje cells. J Physiol 577:127–139

    Article  CAS  PubMed  Google Scholar 

  17. Higgins JJ, Pho LT, Nee LE (1997) A gene (ETM) for essential tremor maps to chromosome 2p22–p25. Mov Disord 12:859–864

    Article  CAS  PubMed  Google Scholar 

  18. IUPHAR DATABASE. Nomenclature of ligand-gates ion channels. http://www.iuphar-db.org/LGICNomenclature.jsp

  19. Jankovic J, Beach J, Schwartz K, Contant C (1995) Tremor and longevity in relatives of patients with Parkinson’s disease, essential tremor, and control subjects. Neurology 45:645–648

    CAS  PubMed  Google Scholar 

  20. Jiménez-Jiménez FJ, De Toledo-Heras M, Alonso-Navarro H, Ayuso-Peralta L, Arévalo-Serrano J, Ballesteros-Barranco A et al (2007) Environmental factors for essential tremor. Eur Neurol 58:106–113

    PubMed  Google Scholar 

  21. Koller WC, Rubino F, Gupta S (1987) Pharmacologic probe with progabide of GABA mechanisms in essential tremor. Arch Neurol 44:905–906

    CAS  PubMed  Google Scholar 

  22. Kralic JE, Criswell HE, Osterman JL, O’Buckley TK, Wilkie ME, Matthews DB et al (2005) Genetic essential tremor in gamma-aminobutyric acid. A receptor alpha 1 subunit knockout mice. J Clin Invest 115:774–779

    CAS  PubMed  Google Scholar 

  23. López del Val LJ, Santos S (2003) Gabapentina en el tratamiento del temblor. Rev Neurol 36:322–326

    PubMed  Google Scholar 

  24. Lorenz D, Klebe S, Stevanin G, Thier S, Nebel A, Feingold J et al (2009) Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. Eur J Hum Genet 17:766–773

    Article  CAS  PubMed  Google Scholar 

  25. Louis ED (2005) Essential tremor. Lancet Neurol 4:100–110

    Article  PubMed  Google Scholar 

  26. Louis ED (2010) Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry. Lancet Neurol 9:613–622

    Article  PubMed  Google Scholar 

  27. Mally J, Baranyi M, Vizi ES (1996) Change in the concentration of amino acids in CSF and serum of patients with essential tremor. J Neural Transm (Gen Sect) 103:555–560

    Article  CAS  Google Scholar 

  28. Mally J, Stone TW (1991) The effect of theophylline on essential tremor: the possible role of GABA. Pharmacol Biochem Behav 29:345–349

    Article  Google Scholar 

  29. Olsen RW, Sieghart W (2008) International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update. Pharmacol Rev 60:243–260

    Article  CAS  PubMed  Google Scholar 

  30. Ondo W, Hunter C, Vuong KD, Schwartz K, Jankovic J (2000) Gabapentin for essential tremor: a multiple-dose, double-blind, placebo-controlled trial. Mov Disord 15:678–682

    Article  CAS  PubMed  Google Scholar 

  31. Pahwa R, Lyons K, Hubble JP, Busenbark K, Reienerth JD, Pahwa A, Koller WC (1998) Double-blind crossover controlled trial of gabapentin in essential tremor. Mov Disord 13:465–467

    Article  CAS  PubMed  Google Scholar 

  32. Paterson NE, Malekiani SA, Foreman MM, Olivier B, Hanania T (2009) Pharmacological characterization of harmaline-induced tremor activity in mice. Eur J Pharmacol 616:73–80

    Article  CAS  PubMed  Google Scholar 

  33. Pértegas Díaz S, Pita Fernández S (2003) Cálculo del poder estadístico de un estudio. Cad Atención Primaria 10:59–63

    Google Scholar 

  34. Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB et al (2006) Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain 129(Part 9):2318–2331

    Article  PubMed  Google Scholar 

  35. SNPs linked to Gene GABRR1 (Gene ID: 2569). http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?chooseRs=coding&go=Go&locusId=2569

  36. SNPs linked to Gene GABRR2 (Gene ID: 2570). http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?chooseRs=coding&go=Go&locusId=2570

  37. SNPs linked to Gene GABRR3 (Gene ID: 200959). http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?chooseRs=coding&go=Go&locusId=200959

  38. Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir IH, Jonsdottir GA et al (2009) Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet 41:277–279

    Article  CAS  PubMed  Google Scholar 

  39. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978–979

    Article  CAS  PubMed  Google Scholar 

  40. Tallón-Barranco A, Vázquez A, Jiménez-Jiménez FJ, Ortí-Pareja M, Gasalla T, Cabrera-Valdivia F et al (1997) Clinical features of essential tremor seen in Neurology practice: a study of 357 patients. Parkinsonism Relat Disord 3:187–190

    Article  PubMed  Google Scholar 

  41. Tan EK, Teo YY, Prakash KM, Li R, Lim HQ, Angeles D et al (2009) LINGO1 variant increases risk of familial essential tremor. Neurology 73:1161–1162

    Article  PubMed  Google Scholar 

  42. Thier S, Lorenz D, Nothnagel M, Stevanin G, Dürr A, Nebel A et al (2010) LINGO1 polymorphisms are associated with essential tremor in Europeans. Mov Disord 25:709–715

    PubMed  Google Scholar 

  43. Vilariño-Güell C, Ross OA, Wider C, Jasinska-Myga B, Cobb SA, Soto-Ortolaza AI et al (2010) LINGO1 rs9652490 is associated with essential tremor and Parkinson disease. Parkinsonism Relat Disord 16:109–111

    Article  PubMed  Google Scholar 

  44. Vilariño-Güell C, Wider C, Ross OA, Jasinska-Myga B, Kachergus J, Cobb SA et al (2010) LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease. Neurogenetics. Apr 6 [Epub ahead of print]

  45. Zesiewicz TA, Ward CL, Hauser RA, Salemi JL, Siraj S, Wilson MC, Sullivan KL (2007) A pilot, double-blind, placebo-controlled trial of pregabalin (Lyrica) in the treatment of essential tremor. Mov Disord 22:1660–1663

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

Financed by grants PS09/00943, PS09/00469, and RETICS RD07/0064/0016 from Fondo de Investigación Sanitaria, Instituto de Salud Carlos III, Madrid, Spain, and PRI07A005 from Junta de Extremadura, Mérida, Spain.

Author information

Author notes

  1. Julián Benito-León

    Present address: Servicio de Neurología, Hospital Doce de Octubre, Madrid, Spain

Authors and Affiliations

  1. Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain

    Elena García-Martín & José A. G. Agúndez

  2. Department of Pharmacology and Psychiatry, University of Extremadura, Badajoz, Spain

    Carmen Martínez

  3. Department of Medicine-Neurology, Hospital “Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares (Madrid), Spain

    Hortensia Alonso-Navarro, Inmaculada Puertas, Lluisa Rubio & Félix Javier Jiménez-Jiménez

  4. Section of Neurology, Hospital del Sureste, Arganda del Rey (Madrid), Spain

    Hortensia Alonso-Navarro & Félix Javier Jiménez-Jiménez

  5. CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain

    Julián Benito-León & Pau Pastor

  6. Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain

    Oswaldo Lorenzo-Betancor & Pau Pastor

  7. Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain

    Oswaldo Lorenzo-Betancor & Pau Pastor

  8. Service of Neurology, Hospital Universitario de Salamanca, Salamanca, Spain

    Tomás López-Alburquerque

  9. C/Marroquina 14, 3ºB, 28030, Madrid, Spain

    Félix Javier Jiménez-Jiménez

Authors
  1. Elena García-Martín
    View author publications

    Search author on:PubMed Google Scholar

  2. Carmen Martínez
    View author publications

    Search author on:PubMed Google Scholar

  3. Hortensia Alonso-Navarro
    View author publications

    Search author on:PubMed Google Scholar

  4. Julián Benito-León
    View author publications

    Search author on:PubMed Google Scholar

  5. Oswaldo Lorenzo-Betancor
    View author publications

    Search author on:PubMed Google Scholar

  6. Pau Pastor
    View author publications

    Search author on:PubMed Google Scholar

  7. Inmaculada Puertas
    View author publications

    Search author on:PubMed Google Scholar

  8. Lluisa Rubio
    View author publications

    Search author on:PubMed Google Scholar

  9. Tomás López-Alburquerque
    View author publications

    Search author on:PubMed Google Scholar

  10. José A. G. Agúndez
    View author publications

    Search author on:PubMed Google Scholar

  11. Félix Javier Jiménez-Jiménez
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to Félix Javier Jiménez-Jiménez.

Rights and permissions

Reprints and permissions

About this article

Cite this article

García-Martín, E., Martínez, C., Alonso-Navarro, H. et al. Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor. J Neurol 258, 203–211 (2011). https://doi.org/10.1007/s00415-010-5708-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1007/s00415-010-5708-z

Keywords

Profiles

  1. Félix Javier Jiménez-Jiménez View author profile








ApplySandwichStrip

pFad - (p)hone/(F)rame/(a)nonymizer/(d)eclutterfier!      Saves Data!


--- a PPN by Garber Painting Akron. With Image Size Reduction included!

Fetched URL: https://link.springer.com/doi/10.1007/s00415-010-5708-z

Alternative Proxies:

Alternative Proxy

pFad Proxy

pFad v3 Proxy

pFad v4 Proxy