Have a personal or library account? Click to login
Alcohol-Responsive Hyperkinetic Movement Disorders—a Mechanistic Hypothesis Cover

Alcohol-Responsive Hyperkinetic Movement Disorders—a Mechanistic Hypothesis

Tremor and Other Hyperkinetic Movements
Volume 10 (2020): Issue 0
By: Steven J. Frucht and  Giulietta M. Riboldi  
Open Access
|Oct 2020

References

  1. 1Abrahao KP, Salinas AG, Lovinger DM. Alcohol and the Brain: Neuronal Molecular Targets, Synapses, and Circuits [Internet]. Neuron. 2017; 96: 1223–38. Cell Press. DOI: 10.1016/j.neuron.2017.10.032
    Back to article
  2. 2Chen JC, Chuang CH, Wang JD, Wang CW. Combination therapy using chelating agent and zinc for Wilson’s disease. Journal of Medical and Biological Engineering. 2015; 35: 697–708. Berlin, Heidelberg: Springer. DOI: 10.1007/s40846-015-0087-7
    Back to article
  3. 3Valenzuela CF, Bhave S, Hoffman P, Adron Harris R. Acute effects of ethanol on pharmacologically isolated kainate receptors in cerebellar granule neurons: Comparison with NMDA and AMPA receptors. J Neurochem. 1998; 71(4): 1777–80. DOI: 10.1046/j.1471-4159.1998.71041777.x
    Back to article
  4. 4Wallner M, Hanchar HJ, Olsen RW. Ethanol enhances α4β3δ and α6β3δ γ-aminobutyric acid type A receptors at low concentrations known to affect humans. Proc Natl Acad Sci U S A. 2003; 100(25): 15218–23. DOI: 10.1073/pnas.2435171100
    Back to article
  5. 5Sur C, Farrar SJ, Kerby J, Whiting PJ, Atack JR, McKernan RM. Preferential coassembly of α4 and δ subunits of the γ-aminobutyric acid(A) receptor in rat thalamus. Mol Pharmacol. 1999; 56(1): 110–5. DOI: 10.1124/mol.56.1.110
    Back to article
  6. 6Jones A, Korpi ER, McKernan RM, Pelz R, Nusser Z, Mäkelä R, et al. Ligand-gated ion channel subunit partnerships: GABA(A) receptor α6 subunit gene inactivation inhibits δ subunit expression. J Neurosci. 1997; 17(4): 1350–62. DOI: 10.1523/JNEUROSCI.17-04-01350.1997
    Back to article
  7. 7Nusser Z, Sieghart W, Somogyi P. Segregation of different GABA(A) receptors to synaptic and extrasynaptic membranes of cerebellar granule cells. J Neurosci. 1998; 18(5): 1693–703. DOI: 10.1523/JNEUROSCI.18-05-01693.1998
    Back to article
  8. 8Stell BM, Mody I. Receptors with different affinities mediate phasic and tonic GABA(A) conductances in hippocampal neurons. J Neurosci. 2002; 22(10). DOI: 10.1523/JNEUROSCI.22-10-j0003.2002
    Back to article
  9. 9Lee V, Maguire J. The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type [Internet]. Frontiers in Neural Circuits. Front Neural Circuits. 2014; Vol. 8. DOI: 10.3389/fncir.2014.00003
    Back to article
  10. 10Wallner M, Hanchar HJ, Olsen RW. Alcohol selectivity of β3-containing GABAA receptors: Evidence for a unique extracellular alcohol/imidazobenzodiazepine Ro15-4513 binding site at the α+β- subunit interface in αβ3δ GABAA receptors. Neurochem Res. 2014; 39(6): 1118–26. DOI: 10.1007/s11064-014-1243-0
    Back to article
  11. 11Olander ER, Madjroh N, Bunch L, Söderhielm PC, Jensen AA. Delineation of the functional properties and the mechanism of action of AA29504, an allosteric agonist and positive allosteric modulator of GABAA receptors. Biochem Pharmacol. 2018; 150: 305–19. DOI: 10.1016/j.bcp.2018.02.015
    Back to article
  12. 12Wisden W, Laurie DJ, Monyer H, Seeburg PH. The distribution of 13 GABA(A) receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon. J Neurosci. 1992; 12(3): 1040–62. DOI: 10.1523/JNEUROSCI.12-03-01040.1992
    Back to article
  13. 13Pritchett DB, Lüddens H, Seeburg PH. Type I and type II GABAA-benzodiazepine receptors produced in transfected cells. Science (80-). 1989; 245(4924): 1389–92. DOI: 10.1126/science.2551039
    Back to article
  14. 14Gunther U, Benson J, Benke D, Fritschy JM, Reyes G, Knoflach F, et al. Benzodiazepine-insensitive mice generated by targeted disruption of the γ2 subunit gene of γ-aminobutyric acid type A receptors. Proc Natl Acad Sci U S A. 1995; 92(17): 7749–53. DOI: 10.1073/pnas.92.17.7749
    Back to article
  15. 15Koller WC, Royse VL. Efficacy of primidone in essential tremor. Neurology. 1986; 36(1): 121–4. DOI: 10.1212/WNL.36.1.121
    Back to article
  16. 16Kaplan JS, Mohr C, Rossi DJ. Opposite actions of alcohol on tonic GABAA receptor currents mediated by nNOS and PKC activity. Nat Neurosci. 2013; 16(12): 1783–93. DOI: 10.1038/nn.3559
    Back to article
  17. 17Boecker H, Wills AJ, Ceballos-Baumann A, Samuel M, Thompson PD, Findley LJ, et al. The effect of ethanol on alcohol-responsive essential tremor: A position emission tomography study. Ann Neurol. 1996; 39(5): 650–8. DOI: 10.1002/ana.410390515
    Back to article
  18. 18Leznik E, Llinás R. Role of gap junctions in synchronized neuronal oscillations in the inferior olive. J Neurophysiol. 2005; 94(4): 2447–56. DOI: 10.1152/jn.00353.2005
    Back to article
  19. 19Wilcox MV, Carlson VCC, Sherazee N, Sprow GM, Bock R, Thiele TE, et al. Repeated Binge-like ethanol drinking alters ethanol drinking patterns and depresses striatal GABAergic transmission. Neuropsychopharmacology. 2014; 39(3): 579–94. DOI: 10.1038/npp.2013.230
    Back to article
  20. 20Liechti ME, Quednow BB, Liakoni E, Dornbierer D, Von Rotz R, Gachet MS, et al. Pharmacokinetics and pharmacodynamics of γ-hydroxybutyrate in healthy subjects. Br J Clin Pharmacol. 2016; 81(5): 980–8. DOI: 10.1111/bcp.12863
    Back to article
  21. 21Wu Y, Ali S, Ahmadian G, Liu CC, Wang YT, Gibson KM, et al. γ-Hydroxybutyric acid (GHB) and γ-aminobutyric acidB receptor (GABABR) binding sites are distinctive from one another: Molecular evidence. Neuropharmacology. 2004; 47(8): 1146–56. DOI: 10.1016/j.neuropharm.2004.08.019
    Back to article
  22. 22Lingenhoehl K, Brom R, Heid J, Beck P, Froestl W, Kaupmann K, et al. γ-Hydroxybutyrate is a weak agonist at recombinant GABA(B) receptors. Neuropharmacology. 1999; 38(11): 1667–73. DOI: 10.1016/S0028-3908(99)00131-8
    Back to article
  23. 23Emson PC. GABAB receptors: structure and function [Internet]. Progress in Brain Research. Prog Brain Res. 2007; 160: 43–57. DOI: 10.1016/S0079-6123(06)60004-6
    Back to article
  24. 24Kulik A, Nakadate K, Nyíri G, Notomi T, Malitschek B, Bettler B, et al. Distinct localization of GABA(B) receptors relative to synaptic sites in the rat cerebellum and ventrobasal thalamus. Eur J Neurosci. 2002; 15(2): 291–307. DOI: 10.1046/j.0953-816x.2001.01855.x
    Back to article
  25. 25Bay T, Eghorn LF, Klein AB, Wellendorph P. GHB receptor targets in the CNS: Focus on high-affinity binding sites [Internet]. Biochemical Pharmacology. Elsevier Inc. 2014; 87: 220–8. DOI: 10.1016/j.bcp.2013.10.028
    Back to article
  26. 26Mehta AK, Muschaweck NM, Ticku MK. Ethanol does not alter the binding of the gamma-hydroxybutyric acid (GHB) receptor ligand [3H]NCS-382 in the rat brain. Drug Alcohol Depend. 2004; 75(3): 323–5. DOI: 10.1016/j.drugalcdep.2004.03.015
    Back to article
  27. 27Nasrallah FA, Maher AD, Hanrahan JR, Balcar VJ, Rae CD. γ-Hydroxybutyrate and the GABAergic footprint: A metabolomic approach to unpicking the actions of GHB. J Neurochem. 2010; 115(1): 58–67. DOI: 10.1111/j.1471-4159.2010.06901.x
    Back to article
  28. 28Brown N, Kerby J, Bonnert TP, Whiting PJ, Wafford KA. Pharmacological characterization of a novel cell line expressing human α4β3δ GABAA receptors. Br J Pharmacol. 2002; 136(7): 965–74. DOI: 10.1038/sj.bjp.0704795
    Back to article
  29. 29Hopfner F, Erhart T, Knudsen K, Lorenz D, Schneider SA, Zeuner KE, et al. Testing for alcohol sensitivity of tremor amplitude in a large cohort with essential tremor. Park Relat Disord. 2015; 21(8): 848–51. DOI: 10.1016/j.parkreldis.2015.05.005
    Back to article
  30. 30Knudsen K, Lorenz D, Deuschl G. A clinical test for the alcohol sensitivity of essential tremor. Mov Disord. 2011; 26(12): 2291–5. DOI: 10.1002/mds.23846
    Back to article
  31. 31Massey EW. Essential vocal tremor: clinical characteristics and response to therapy – PubMed [Internet].
    Back to article
  32. 32Dias FA, Munhoz RP, Raskin S, Werneck LC, Teive HAG. Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy’s disease). Clinics. 2011; 66(6): 955–7. DOI: 10.1590/S1807-59322011000600006
    Back to article
  33. 33Voller B, Lines E, Mccrossin G, Artiles A, Tinaz S, Lungu C, et al. Alcohol challenge and sensitivity to change of the essential tremor rating assessment scale. Mov Disord. 2014; 29(4): 555–8. DOI: 10.1002/mds.25667
    Back to article
  34. 34Zeuner KE, Molloy FM, Shoge RO, Goldstein SR, Wesley R, Hallett M. Effect of ethanol on the central oscillator in essential tremor. Mov Disord. 2003; 18(11): 1280–5. DOI: 10.1002/mds.10553
    Back to article
  35. 35De Haas SL, Zoethout RWM, Van Dyck K, De Smet M, Rosen LB, Murphy MG, et al. The effects of TPA023, a GABAAα2,3 subtype-selective partial agonist, on essential tremor in comparison to alcohol. J Psychopharmacol. 2012; 26(2): 282–91. DOI: 10.1177/0269881111415731
    Back to article
  36. 36Frucht SJ, Houghton WC, Bordelon Y, Greene PE, Louis ED. A single-blind, open-label trial of sodium oxybate for myoclonus and essential tremor. Neurology. 2005; 65(12): 1967–9. DOI: 10.1212/01.wnl.0000188670.38576.bd
    Back to article
  37. 37Growdon JH, Shahani BT, Young RR. The effect of alcohol on essential tremor. Neurology. 1975; 25(3): 259–62. DOI: 10.1212/WNL.25.3.259
    Back to article
  38. 38Bain PG, Findley LJ, Britton TC, Rothwell JC, Gresty MA, Thompson PD, et al. Primary writing tremor. Brain. 1995; 118(6): 1461–72. DOI: 10.1093/brain/118.6.1461
    Back to article
  39. 39Koller WC, Vetere-Overfield B. Acute and chronic effects of propranolol and primidone in essential tremor. Neurology. 1989; 39(12): 1587–8. DOI: 10.1212/WNL.39.12.1587
    Back to article
  40. 40Sulica L, Louis ED. Clinical characteristics of essential voice tremor: A study of 34 cases. Laryngoscope. 2010; 120(3): 516–28. DOI: 10.1002/lary.20702
    Back to article
  41. 41Rumbach AF, Blitzer A, Frucht SJ, Simonyan K. An open-label study of sodium oxybate in Spasmodic dysphonia. Laryngoscope. 2017; 127(6): 1402–7. DOI: 10.1002/lary.26381
    Back to article
  42. 42Wilcox RA, Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal. Mov Disord. 2011; 26(13): 2404–8. DOI: 10.1002/mds.23866
    Back to article
  43. 43Biary N, Koller W. Effect of alcohol on dystonia. Neurology. 1985; 35(2): 239–40. DOI: 10.1212/WNL.35.2.239
    Back to article
  44. 44Lim SC, Kim JS, An JY, Kang SY. Alcohol-responsive writer’s cramp. Intern Med. 2012; 51(1): 99–101. DOI: 10.2169/internalmedicine.51.6322
    Back to article
  45. 45Micheli F, Uribe-Roca C, Saenz-Farret M. Alcohol-Sensitive Generalized Dystonia. Clin Neuropharmacol. 2017; 40(1): 48–9. DOI: 10.1097/WNF.0000000000000199
    Back to article
  46. 46Grantham HJ, Goldsmith P. Adult-Onset Alcohol Suppressible Cervical Dystonia: A Case Report. Mov Disord Clin Pract. 2015; 2(1): 102–3. DOI: 10.1002/mdc3.12098
    Back to article
  47. 47Frucht SJ, Bordelon Y, Houghton WH. Marked amelioration of alcohol-responsive posthypoxic myoclonus by gamma-hydroxybutyric acid (Xyrem). Mov Disord. 2005; 20(6): 745–51. DOI: 10.1002/mds.20452
    Back to article
  48. 48Frucht SJ, Bordelon Y, Houghton WH, Reardan D. A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders. Mov Disord. 2005; 20(10): 1330–7. DOI: 10.1002/mds.20605
    Back to article
  49. 49Priori A, Bertolasi L, Pesenti A, Cappellari A, Barbieri S. γ-Hydroxybutyric acid for alcohol-sensitive myoclonus with dystonia [Internet]. Neurology. Lippincott Williams and Wilkins. 2000; 54: 1706–7. DOI: 10.1212/WNL.54.8.1706
    Back to article
  50. 50Arpesella R, Dallocchio C, Arbasino C, Imberti R, Martinotti R, Frucht SJ. A patient with intractable posthypoxic myoclonus (Lance-Adams syndrome) treated with sodium oxybate. Anaesth Intensive Care. 2009; 37(2): 314–8. DOI: 10.1177/0310057X0903700214
    Back to article
  51. 51Riboldi GM, Frucht SJ. Increasing evidence for the use of sodium oxybate in multi-drug-resistant lance–adams syndrome. Tremor and Other Hyperkinetic Movements. 2019; 9. DOI: 10.5334/tohm.472
    Back to article
  52. 52Jain S, Jain M. Action myoclonus (lance-adam syndrome) secondary to strangulation with dramatic response to alcohol. Mov Disord. 1991; 6(2): 183–183. DOI: 10.1002/mds.870060219
    Back to article
  53. 53Lu CS, Chu NS. Effects of alcohol on myoclonus and somatosensory evoked potentials in dyssynergia cerebellaris myoclonica. J Neurol Neurosurg Psychiatry. 1991; 54(10): 905–8. DOI: 10.1136/jnnp.54.10.905
    Back to article
  54. 54Jain S, Tamer SK, Hiran S. Beneficial effect of alcohol in hereditary cerebellar ataxia with myoclonus (Progressive myoclonic ataxia): Report of two siblings. Mov Disord. 1996; 11(6): 751–2. DOI: 10.1002/mds.870110629
    Back to article
  55. 55Genton P, Guerrini R, Jain S. Effect of alcohol on action myoclonus in Lance-Adams syndrome and progressive myoclonus epilepsy. Movement Disorders. Mov Disord. 1992; 7: 92–92. DOI: 10.1002/mds.870070122
    Back to article
  56. 56Genton P, Guerrini R. Antimyoclonic effects of alcohol in progressive myoclonus epilepsy. Neurology. 1990; 40(9): 1412–6. DOI: 10.1212/WNL.40.9.1412
    Back to article
  57. 57Weissbach A, Werner E, Bally JF, Tunc S, Löns S, Timmann D, et al. Alcohol improves cerebellar learning deficit in myoclonus–dystonia: A clinical and electrophysiological investigation. Ann Neurol. 2017; 82(4): 543–53. DOI: 10.1002/ana.25035
    Back to article
  58. 58Volkow ND, Mullani N, Gould L, Adler SS, Guynn RW, Overall JE, et al. Effects of acute alcohol intoxication on cerebral blood flow measured with PET. Psychiatry Res. 1988; 24(2): 201–9. DOI: 10.1016/0165-1781(88)90063-7
    Back to article
  59. 59Volkow ND, Wang GJ, Franceschi D, Fowler JS, Thanos PK, Maynard L, et al. Low doses of alcohol substantially decrease glucose metabolism in the human brain. Neuroimage. 2006; 29(1): 295–301. DOI: 10.1016/j.neuroimage.2005.07.004
    Back to article
  60. 60Volkow ND, Ma Y, Zhu W, Fowler JS, Li J, Rao M, et al. Moderate doses of alcohol disrupt the functional organization of the human brain. Psychiatry Res – Neuroimaging. 2008; 162(3): 205–13. DOI: 10.1016/j.pscychresns.2007.04.010
    Back to article
  61. 61Kemmel V, Miehe M, Roussel G, Taleb O, Nail-Boucherie K, Marchand C, et al. Immunohistochemical localization of a GHB receptor-like protein isolated from rat brain. J Comp Neurol. 2006; 498(4): 508–24. DOI: 10.1002/cne.21072
    Back to article
  62. 62Tijssen MAJ, Thom M, Ellison DW, Wilkins P, Barnes D, Thompson PD, et al. Cortical myoclonus and cerebellar pathology. Neurology. 2000; 54(6): 1350–6. DOI: 10.1212/WNL.54.6.1350
    Back to article
  63. 63Bhatia KP, Brown P, Gregory R, Lennox GG, Manji H, Thompson PD, Ellison DW, Marsden CD. Progressive Myoclonic Ataxia Associated With Coeliac Disease. The Myoclonus Is of Cortical Origin, but the Pathology Is in the Cerebellum – PubMed [Internet].
    Back to article
  64. 64Lance JW. Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes. Adv Neurol. 1986; 43.
    Back to article
  65. 65Cohen NR, Hammans SR, Macpherson J, Nicoll JAR. New neuropathological findings in Unverricht-Lundborg disease: Neuronal intranuclear and cytoplasmic inclusions. Acta Neuropathol. 2011; 121(3): 421–7. DOI: 10.1007/s00401-010-0738-2
    Back to article
  66. 66Mascalchi M, Michelucci R, Cosottini M, Tessa C, Lolli F, Riguzzi P, et al. Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and 1H MRS study. Neurology. 2002; 58(11): 1686–9. DOI: 10.1212/WNL.58.11.1686
    Back to article
  67. 67Riccio M, Santi S, Dembic M, Di Giaimo R, Cipollini E, Costantino-Ceccarini E, et al. Cell-specific expression of the epm1 (cystatin B) gene in developing rat cerebellum. Neurobiol Dis. 2005; 20(1): 104–14. DOI: 10.1016/j.nbd.2005.02.012
    Back to article
  68. 68Welsh JP. Why do Purkinje cells die so easily after global brain ischemia? Aldolase C, EAAT4, and the cerebellar contribution to posthypoxic myoclonus – PubMed [Internet].
    Back to article
  69. 69Frucht SJ, Trošt M, Ma Y, Eidelberg D. The metabolic topography of posthypoxic myoclonus. Neurology. 2004; 62(10): 1879–81. DOI: 10.1212/01.WNL.0000125336.05001.23
    Back to article
  70. 70Carbon M, Raymond D, Ozelius L, Saunders-Pullman R, Frucht S, Dhawan V, et al. Metabolic changes in DYT11 myoclonus-dystonia. Neurology. 2013; 80(4): 385–91. DOI: 10.1212/WNL.0b013e31827f0798
    Back to article
  71. 71Ferlazzo E, Gasparini S, Cianci V, Cherubini A, Aguglia U. Serial MRI findings in brain anoxia leading to Lance-Adams syndrome: A case report. Neurol Sci. 2013; 34(11): 2047–50. DOI: 10.1007/s10072-013-1356-2
    Back to article
  72. 72Simonyan K, Frucht SJ, Blitzer A, Sichani AH, Rumbach AF. A novel therapeutic agent, sodium oxybate, improves dystonic symptoms via reduced network-wide activity. Sci Rep. 2018; 8(1). DOI: 10.1038/s41598-018-34553-x
    Back to article
  73. 73Ritz K, Van Schaik BDC, Jakobs ME, Van Kampen AH, Aronica E, Tijssen MA, et al. SGCE isoform characterization and expression in human brain: Implications for myoclonus-dystonia pathogenesis. Eur J Hum Genet. 2011; 19(4): 438–44. DOI: 10.1038/ejhg.2010.206
    Back to article
  74. 74Washburn SG, Fremont R, Moreno MC, Angueyra C, Khodakhah K. Acute cerebellar knockdown of sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice. Elife. 2019; 8. DOI: 10.7554/eLife.52101
    Back to article
  75. 75Louis ED. Essential Tremor: A Common Disorder of Purkinje Neurons? Neuroscientist. 2016; 22(2): 108–18. DOI: 10.1177/1073858415590351
    Back to article
  76. 76Louis ED, Faust PL, Vonsattel JPG, Honig LS, Rajput A, Robinson CA, et al. Neuropathological changes in essential tremor: 33 Cases compared with 21 controls. Brain. 2007; 130(12): 3297–307. DOI: 10.1093/brain/awm266
    Back to article
  77. 77Broersma M, Van Der Stouwe AMM, Buijink AWG, De Jong BM, Groot PFC, Speelman JD, et al. Bilateral cerebellar activation in unilaterally challenged essential tremor. NeuroImage Clin. 2016; 11: 1–9. DOI: 10.1016/j.nicl.2015.12.011
    Back to article
  78. 78Pedrosa DJ, Nelles C, Brown P, Volz LJ, Pelzer EA, Tittgemeyer M, et al. The differentiated networks related to essential tremor onset and its amplitude modulation after alcohol intake. Exp Neurol. 2017; 297: 50–61. DOI: 10.1016/j.expneurol.2017.07.013
    Back to article
DOI: https://doi.org/10.5334/tohm.560 | Journal eISSN: 2160-8288
Journal RSS Feed
Language: English
Submitted on: Aug 24, 2020
Accepted on: Oct 13, 2020
Published on: Oct 21, 2020
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
alcohol,
GHB,
sodium oxybate,
tremor,
myoclonus,
dystonia

© 2020 Steven J. Frucht, Giulietta M. Riboldi, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.

Previous articleVolume 10 (2020): Issue 0Next article