Journal of Neurology

, Volume 253, Issue 10, pp 1362–1364 | Cite as

Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide

  • Veronique Michel
  • Florence Riant
  • Elisabeth Tournier-Lasserve
  • Dominique Guehl
  • Alain Lagueny
  • Bernard Bioulac
  • Pierre BurbaudEmail author

Sirs: Paroxysmal dyskinesias are a heterogeneous group of movement disorders characterized by recurrent brief episodes of abnormal involuntary movements [1, 2, 3] Among them, paroxysmal dystonic choreoathetosis (PDC) is associated with dystonic or choreic attacks unrelated to movement. It may occur spontaneously at rest without any triggering factors but attacks are frequently precipitated by caffeine or alcohol consumption, stress and fatigue. In contrast to paroxysmal kinesigenic choreathetosis (PKC), PDC attacks are more dystonic, usually last longer, and are less frequent with long attack-free intervals [3, 4]. Although most cases are familial, sporadic and secondary forms of PDC have been reported [4, 5].

We report a patient with a sporadic severe PDC which has been dramatically improved by acetazolamide over a period of three years. This 17-year-old boy who had a normal birth and no familial history developed his first symptoms at the age of 12. He presented recurrent episodes of...


Dystonia Acetazolamide Valproate Sodium Tiapride Paroxysmal Kinesigenic Dyskinesia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Demirkiran M, Jankovic J (1995) Paroxysmal dyskinesias:clinical features and classification. Ann Neurol 38:571–579PubMedCrossRefGoogle Scholar
  2. 2.
    Vidailhet M (2000) Paroxysmal dyskinesias as a paradigm of paroxysmal movement disorders. Curr Opin Neurol 13:457–462PubMedCrossRefGoogle Scholar
  3. 3.
    Bathia KP (2001) Familial (idiopathic) paroxysmal dyskinesias:an update. Sem Neurol 21:68–74Google Scholar
  4. 4.
    Bressman SB, Fahn S, Burke RE. Paroxysmal non-kinesigenic dystonia. Advances in Neurology, vol. 50, pp403–13:dystonia 2, ed. by Stanley Fahn et al., Raven Press, New York 1988 Google Scholar
  5. 5.
    Blakeley J, Jankovic J (2002) Secondary causes of paroxysmal dyskinesia. Adv Neurol 89:401–420PubMedGoogle Scholar
  6. 6.
    Denier C, Ducros A, Durr A, et al. (2001) Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol 68(3):292–5CrossRefGoogle Scholar
  7. 7.
    Rainier SR, Thomas D, Tokarz D, et al. (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61:1025–1029PubMedCrossRefGoogle Scholar
  8. 8.
    Lee HY, Huang Y, Ahn AH, et al. (2004) The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme stress responses pathway. Human Mol Genet 13(24):3161–70CrossRefGoogle Scholar
  9. 9.
    Mayeux R, Fahn S (1982) Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. Neurology 32:1184–1186PubMedGoogle Scholar
  10. 10.
    Sethi KD, Hess DC, Huffnagle VH, et al. (1992) Acetazolamide treatment of paroxysmal dystonia in central demyelinating disease. Neurology 42:919–921PubMedGoogle Scholar
  11. 11.
    Ophoff RA, Terwindt GM, Vergouwe MN, et al. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACN11A. Cell 87:543–552PubMedCrossRefGoogle Scholar
  12. 12.
    Jodice C, Mantuano E, Veneziano L, et al. (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repat expansion in the CACNA1A gene on chromosome 19p. Hum Molec Genet 6:1973–1978PubMedCrossRefGoogle Scholar
  13. 13.
    Tournier-Lasserre E (1999) CACNA1A mutations:hemiplegic migraine, episodic ataxia type 2, and the others. Neurology 53(1):3–4Google Scholar
  14. 14.
    Zuberi SM, Eunson LH, Spauschus A, et al. (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122:817–825PubMedCrossRefGoogle Scholar
  15. 15.
    Guida S, Trettel F, Pagnutti S, et al. (2001) Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 68(3):759–64PubMedCrossRefGoogle Scholar
  16. 16.
    Fink JK, Hedera P, Mathay JG, et al. (1997) Paroxysmal dystonic choreoathetosis linked to chromosome 2q. Neurology 49:177–183PubMedGoogle Scholar
  17. 17.
    Fouad GT, Rainer S, Wilkowski J, et al. (2003) A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet, 1996, 59:135–139.Cytogenet Genome Res 100(1–4):147–53Google Scholar
  18. 18.
    Raskind WH, Bolin J, Wolff J, et al. (1998) Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. Hum Genet 102:93–97PubMedCrossRefGoogle Scholar
  19. 19.
    Auburger G, Ratzlaff T, Lunkes A, et al. (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197. Genomics 31:90–94PubMedCrossRefGoogle Scholar
  20. 20.
    Du W, Bautista JF, Yang H, Diez-Sampedro, You SA, Wang L, Kotagal P, Lüders HO, Shi J, Cui J, Richerson GB, Wang QK (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nature Genetics 37(7):733–738PubMedCrossRefGoogle Scholar
  21. 21.
    Leniger T, Wiemann M, Bingmann D, Widman G, Hufnagel A, Bonnet U (2002) Carbonic anhydrase inhibitor sulthiane reduces intracellular pH and epileptic activity of hippocampal CA3 neurons. Epilepsia 43(5):469–74PubMedCrossRefGoogle Scholar
  22. 22.
    Richter A, Hamman M (2004) The carbonic anhydrase inhibitor acetazolamide exerts andystonic effects in the dtsz mutant hamster. Eur J Pharmacol 502:105–108PubMedCrossRefGoogle Scholar

Copyright information

© Steinkopff Verlag Darmstadt 2006

Authors and Affiliations

  • Veronique Michel
    • 1
  • Florence Riant
    • 2
  • Elisabeth Tournier-Lasserve
    • 2
  • Dominique Guehl
    • 1
  • Alain Lagueny
    • 3
  • Bernard Bioulac
    • 1
  • Pierre Burbaud
    • 1
    Email author
  1. 1.Service de Neurophysiologie cliniqueHopital PellegrinLéonFrance
  2. 2.INSERM EPI-99-21, Hôpital LariboisièreParisFrance
  3. 3.Service de Neurologie, Hopital Haut-LévèquePessacFrance

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