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

Journal of Neurology

Volumn 258, Issue 2, 2011, Pages 203-211

  García Martín, Elena ^a   Martínez, Carmen ^a   Alonso Navarro, Hortensia ^b,c   Benito León, Julián ^d,e   Lorenzo Betancor, Oswaldo ^f,g   Pastor, Pau ^e,f,g   Puertas, Inmaculada ^b   Rubio, Lluisa ^b   López Alburquerque, Tomás ^h   Agúndez, José A G ^a   Jiménez Jiménez, Félix Javier ^c,i  

^a UNIVERSITY OF EXTREMADURA   (Spain)

^b UNIVERSITY OF ALCALÁ   (Spain)

^c Hospital Universitario del Sureste de Madrid   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^f UNIVERSITY OF NAVARRA   (Spain)

^g UNIVERSITY OF NAVARRA   (Spain)

^h HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

ⁱ NONE   (Spain)

Author keywords

Essential tremor; GABA receptor rho; GABRR polymorphisms; Genetics; Risk factors

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; 4 AMINOBUTYRIC ACID RECEPTOR RHO1; 4 AMINOBUTYRIC ACID RECEPTOR RHO2; 4 AMINOBUTYRIC ACID RECEPTOR RHO3; ALCOHOL; ARGININE; HISTIDINE; METHIONINE; THREONINE; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; ESSENTIAL TREMOR; FEMALE; GENDER; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

EID: 79953778209     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5708-z     Document Type: Article

References (45)

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
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
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 (Pubitemid 40363504)
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 (Pubitemid 36527279)
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 (Pubitemid 28113621)
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
8. Daly AK, Day CP (2001) Candidate gene case-control association studies: advantages and potential pitfalls. Br J Clin Pharmacol 52:489-499
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
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
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
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
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 (Pubitemid 29166343)
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 (Pubitemid 27377537)
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 (Pubitemid 44698245)
17. Higgins JJ, Pho LT, Nee LE (1997) A gene (ETM) for essential tremor maps to chromosome 2p22-p25. Mov Disord 12:859-864 (Pubitemid 27496760)
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
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
21. Koller WC, Rubino F, Gupta S (1987) Pharmacologic probe with progabide of GABA mechanisms in essential tremor. Arch Neurol 44:905-906 (Pubitemid 17133685)
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 knock-out mice. J Clin Invest 115:774-779 (Pubitemid 40322254)
23. López del Val LJ, Santos S (2003) Gabapentina en el tratamiento del temblor. Rev Neurol 36:322-326 (Pubitemid 36565045)
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
25. Louis ED (2005) Essential tremor. Lancet Neurol 4:100-110
26. Louis ED (2010) Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry. Lancet Neurol 9:613-622
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 (Pubitemid 26383642)
28. Mally J, Stone TW (1991) The effect of theophylline on essential tremor: the possible role of GABA. Pharmacol Biochem Behav 29:345-349
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
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 (Pubitemid 30479620)
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 (Pubitemid 28221499)
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
33. Pértegas Díaz S, Pita Fernández S (2003) Cálculo del poder estadístico de un estudio. Cad Atención Primaria 10:59-63
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 (Pubitemid 44522117)
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
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
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 (Pubitemid 28188828)
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
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
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
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 (Pubitemid 47477935)