Skip to main content
SpringerLink
Log in

Paroxysmale Dyskinesien

Ein Überblick anhand eines Fallberichtes

The paroxysmal dyskinesias – Case report and clinical update

  • KASUISTIK
  • Published:
Zeitschrift für Epileptologie Aims and scope Submit manuscript

Abstract

Paroxysmal dyskinesias are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between attacks. Three main types of paroxysmal dyskinesias can be distinguished based upon their precipitating events – (i) paroxysmal non-kinesiogenic dyskinesias (PNKD), (ii) paroxysmal kinesiogenic dyskinesias (PKD) and (iii) paroxysmal exercise-induced (exertion- induced) dyskinesias (PED). All three have to be clearly differentiated from non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders. We describe a woman who suffered from paroxysmal kinesiogenic dyskinesia and elucidate the clinical characteristics and differential diagnosis of these paroxysmal disorders.

Zusammenfassung

Paroxysmale Dyskinesien sind seltene neurologische Erkrankungen und sind charakterisiert durch das attakkenförmige Auftreten transienter Hyperkinesien unterschiedlicher Ätiologie. Der neurologische Befund im Intervall ist meist unauffällig. Grundsätzlich können in Abhängigkeit von auslösenden Faktoren drei Hauptgruppen von paroxysmalen Dyskinesien unterschieden werden: – paroxysmale nicht-kinesiogene Dyskinesien (PNKD) – paroxysmale kinesiogene Dyskinesien (PKD) und paroxysmale anstrengungsinduzierte (exercise-induced, exertion-induced) Dyskinesie (PED). Diese drei Gruppen sind von nicht-epileptischen psychogenen, von nichtepileptischen organischen und epileptischen Anfällen zu unterscheiden. Anhand eines Fallbeispieles einer Patientin mit PKD werden die klinischen Charakteristika paroxysmaler Dyskinesien beschrieben.

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

Access this article

Log in via an institution

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

References

  1. Mount LA, Reback S (1940) Familial paroxysmal choreoathetosis. Arch Neurology Psychiatry 44:841–847

    Google Scholar 

  2. Kertesz A (1967) Paroxysmal kinesiogenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndromes. Description of 10 cases, included 1 autopsied. Neurology 17:680–690

    PubMed  CAS  Google Scholar 

  3. Lance JW (1977) Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 2:285–293

    Article  PubMed  CAS  Google Scholar 

  4. Goodenough DJ, Fariello RG, Annis BL, Chun RW (1978) Familial and aquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch Neurol 35:827–831

    PubMed  CAS  Google Scholar 

  5. Fahn S (1994) The paroxysmal dyskinesias. In: Marsden CD, Fahn S (eds) Movement disorders 3. Butterworth- Heinemann, Oxford pp 310–345

  6. Demirikiran M, Jankovic J (1995) Paroxysmal Dyskinesias: Clinical Features and Classification. Ann Neurol 38:571–579

    Article  Google Scholar 

  7. Lugaresi E, Cirignotti F (1981) Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome. Sleep 4:129–138

    PubMed  CAS  Google Scholar 

  8. Meierkord H, Fish DR, Smith SJM, Scott CA, Shorvon SD, Marsden CD (1992) Is nocturnal dystonia a form of frontal lobe epilepsy? Mov Disord 7:38–42

    Article  PubMed  CAS  Google Scholar 

  9. Tinuper P, Cerullo A, Cirignotti F, Cortelli P, Lugaresi E, Montagna P (1990) Nocturnal paroxysmal dystonia with short lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 31:549–556

    PubMed  CAS  Google Scholar 

  10. Scheffer IE, Bhatia KP, Lopes-Cendes I (1994) Autosomal-dominant frontal lobe epilepsy misdiagnosed as a sleep disorder. Lancet 343:515–517

    Article  PubMed  CAS  Google Scholar 

  11. Scheffer IE, Bhatia KP, Lopes-Cendes I (1995) Autosomal-dominant nocturnal frontal lobe epilepsy. A distince clinical disorder. Brain 118:61–73

    Article  PubMed  Google Scholar 

  12. Phillips HA, Scheffer IE, Berkovic SF, Holloway GE, Sutherland GR, Mulley JC (1995) Localization of a gene for autosomal-dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2 Nat Gen 10:117–118

    Article  CAS  Google Scholar 

  13. Andermann F, Kobayashi E, Andermann E (2005) Genetic focal epilepsies: State of the Art and Paths to the Future. Epilepsia 46(Suppl10):61–67

    Article  PubMed  Google Scholar 

  14. Bhatia KP (1999) The paroxysmal dyskinesias. J Neurol 246:149–155

    Article  PubMed  CAS  Google Scholar 

  15. Bhatia KP (2001) Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol 21:69–74

    Article  PubMed  CAS  Google Scholar 

  16. Jankovic J, Demirkiran M (2002) Classification of Paroxysmal Dyskinesias and Ataxias. In: Fahn S (ed) Myoclonus and Paroxysmal Dyskinesias, Advances in Neurology, vol 89. Lippincott Williams & Wilkins, Philadelphia, pp 387–400

  17. Nardocci N, Fernandez-Alvarez E, Wood NW, Spacey SD, Richter A (2002) The paroxysmal dyskinesias. In: Guerrini R, Aicardi J, Andermann F, Hallett M (eds) Epilepsy and Movement Disorders. Cambridge University Press, pp 125–139

  18. Guerrini R, Parmeggiani L, Casari G (2002) Epilepsy and Paroxysmal Dyskinesia: Co-occurrence and Differential Diagnosis. In: Fahn S (ed) Myoclonus and Paroxysmal Dyskinesias, Advances in Neurology, vol 89. Lippincott Williams & Wilkins, Philadelphia, pp 433–443

  19. Berger JR, Sheremata WA, Melamed E (1984) Paroxysmal dystonia as the initial manifestation of multiple sclerosis. Arch Neurol 41:747–750

    PubMed  CAS  Google Scholar 

  20. Lee MS, Marsden CD (1994) Movement disorders following lesions of the thalamus or subthalamic region. Mov Disor 9:493–507

    Article  CAS  Google Scholar 

  21. Fink JW, Rainer S, Wilkowski J et al (1996) Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 59:140– 145

    PubMed  CAS  Google Scholar 

  22. Fouad GT, Servidei S, Durcan S et al (1997) A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet 59:135–139

    Google Scholar 

  23. Hoefele K, Benecke R, Auburger G (1997) Gene locus FPD1 of the dystonic Mount-Reback type of autosomal- dominant paroxysmal choreoathetosis. Neurology 49:1252–1256

    Google Scholar 

  24. Raskind WH, Bolin T, Wolf J et al (1998) Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5 cM region on chromosome 2q34. Hum Genet 102:93–97

    Article  PubMed  CAS  Google Scholar 

  25. Matsuo H, Kamakuro K, Saito M et al (1999) Familial paroxysmal dystonic choreoathetosis:clinicla findings in a large Japanese family and genetic linkage to 2q. Arch Neurol 56:721–726

    Article  PubMed  CAS  Google Scholar 

  26. Spacey SD, Adams PJ, Lam PC, Materek LA, Stoessl AJ, Snutch TP, Hsiung GY (2006) Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 66(10):1588–1590

    Article  PubMed  CAS  Google Scholar 

  27. Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptacek LJ (2004) The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 13:3161–170

    Article  PubMed  CAS  Google Scholar 

  28. Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61:1025–1029

    Article  PubMed  Google Scholar 

  29. Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH (2005) Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol 62:597–600

    Article  PubMed  Google Scholar 

  30. Kikuchi S, Shinpo K, Moriwaka F, Makita Z, Miyata T, Tashiro L (1999) Neurotoxicity of methylglyoxal and 3- deoxyglucosone on cultured cortical neurons: synergism between glycation and oxidative stress, possibly involved in neurodegenerative diseases. J Neurosci Res 57:280–289

    Article  PubMed  CAS  Google Scholar 

  31. Nagao M, Fujita Y, Wakagayadhi K, Nukaya H, Kosuge T, Sugimura T (1986) Mutagens in coffee and other beverages. Environ Health Perspect 67:89–91

    Article  PubMed  CAS  Google Scholar 

  32. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ (2004) Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 63:2280–2287

    PubMed  CAS  Google Scholar 

  33. Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N (1999) Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2–q12.1. Am J Hum Genet 65:1688–1697

    Article  PubMed  CAS  Google Scholar 

  34. Bennett LB, Roach ES, Bowcock AM (2000) A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 54:125–130

    PubMed  CAS  Google Scholar 

  35. Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptacek LJ (2000) Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 55:224–230

    PubMed  CAS  Google Scholar 

  36. Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB (2000) A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13–q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 123 (Pt 10):2040–2045

    Article  PubMed  Google Scholar 

  37. Spacey SD, Valente EM, Wali GM, Warner TT, Jarman PR, Schapira AH, Dixon PH, Davis MB, Bhatia KP, Wood NW (2002) Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 17:717–125

    Article  PubMed  Google Scholar 

  38. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP (1997) Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 61:889–898

    PubMed  CAS  Google Scholar 

  39. Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P (1998) Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12–q12 in a Chinese family. Hum Genet 103:608–612

    Article  PubMed  CAS  Google Scholar 

  40. Du W, Bautista J, Yang H, Diez-Sampedro A, You SA, Wang L, Kotagal P, Lüders HO, Shi JS, Cui J, Richerson GB, Wang QK (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nature Genetics 37:733–738

    Article  PubMed  CAS  Google Scholar 

  41. 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 2 cM between D1S443 and D1S197. Genomics 31:90–94

    Article  PubMed  CAS  Google Scholar 

  42. Guerinni R, Bonanni P, Nardocci N et al (2000) Autosomal recessive rolandic epilepsy with paroxysmal exercise induced dystonia and writer’s cramp: deliniation of the syndrome and gene mapping to chromosome 16p12–11.2 Ann Neurol 45:344–352

    Article  Google Scholar 

  43. Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T, Parmeggiani L, Bernardina BD (2002) Early-onset Absence Epilepsy and Paroxysmal Dyskinesia. Epilepsia 43(10):1224–1229

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medizinische Universität Innsbruck, Universitätsklinik für Neurologie, Anichstraße 35, 6020, Innsbruck, Austria

    Iris Unterberger, Judith Dobesberger, Gerald Walser, Eugen Trinka & Gerhard Bauer

Authors
  1. Iris Unterberger
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Judith Dobesberger
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gerald Walser
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Eugen Trinka
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gerhard Bauer
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Iris Unterberger.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Unterberger, I., Dobesberger, J., Walser, G. et al. Paroxysmale Dyskinesien. Z. Epileptol. 20, 143–150 (2007). https://doi.org/10.1007/s10309-007-0262-0

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10309-007-0262-0

Key words

Schlüsselwörter

Search

Navigation