Paroxysmal dyskinesias (PDs) are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between the attacks. Three main types of PDs can be distinguished based on their precipitating events - (i) paroxysmal kinesigenic dyskinesias (PKD), (ii) paroxysmal non-kinesigenic dyskinesias (PNKD) and (iii) paroxysmal exercise-induced (exertion-induced) dyskinesias (PED). The diagnosis of PDs is based on their clinical presentation and precipitating events. Substantial progress has been made in the field of genetics and PDs. Treatment options mainly include anticonvulsants and benefit of treatment is depending on the type of PD. Most important differential diagnosis are non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders, especially nocturnal frontal lobe epilepsy.
Alemdar, M., Iseri, P., Selekler, M. and Komsuoglu, S.S. (2007) Levetiractam responding paroxysmal nonkinesigenic dyskinesia. Clin Neuropharmacol30(4): 241-244.
2.
Andermann, F., Kobayashi, E. and Andermann, E. (2005) Genetic focal epilepsies: state of the art and paths to the future. Epilepsia46(Suppl 10): 61-67.
3.
Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H.W., Leube, B., Binkofski, F. 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 . Genomics31: 90-94.
4.
Bennett, L.B., Roach, E.S. and Bowcock, A.M. (2000) A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology54: 125-130.
5.
Berger, J.R., Sheremata, W.A. and Melamed, E. (1984) Paroxysmal dystonia as the initial manifestation of multiple sclerosis. Arch Neurol41: 747-750.
6.
Bhatia, K.P., Soland, V.L., Bhatt, M.H., Quinn, N.P. and Marsden, C.D. (1997) Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord12(6): 1007-1012.
7.
Bhatia, K.P. (1999) The paroxysmal dyskinesias. J Neurol246: 149-155.
Bozi, M. and Bhatia, K.P. (2003) Paroxysmal exercise induced dystonia as a presenting symptom of young onset Parkinsonsás disease. Mov Disord18(12): 1545-1547.
10.
Bruno, M.K., Hallett, M., Gwinn-Hardy, K., Sorensen, B., Considine, E., Tucker, S. et al. (2004) Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology63: 2280-2287.
11.
Bruno, M.K., Lee, H.Y., Auburger, G.W., Friedman, A., Nielsen, J.E., Lang, A.E. et al. (2007) Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology68(21): 1782-1789.
12.
Chen, D.H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A. et al. (2005) Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol62: 597-600.
13.
Demirkiran, M. and Jankovic, J. (1995) Paroxysmal dyskinesias: clinical features and classification . Ann Neurol38: 571-579.
14.
Du, W., Bautista, J.F., Yang, H., Diez-Sampedro, A., You, S.A., Wang, L. et al. (2005) Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nature Genetics37: 733-738.
15.
Fahn, S. (1994) The paroxysmal dyskinesias. In: Marsden, C.D. and Fahn, S. (eds) Movement disorders 3. Butterworth-Heinemann , Oxford, pp. 310-345.
16.
Fink, J.W., Rainer, S., Wilkowski, J., Jones, S.M., Kume, A., Hedera, P. et al. (1996) Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet59: 140-145.
17.
Fouad, G.T., Servidei, S., Durcan, S., Bertini, E. and Ptacek, L.J. (1996) A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Am J Hum Genet59: 135-139.
18.
Gambardella, A., Annesi, G., De Fusco, M., Patrignani, A., Aguglia, U., Annesi, F. et al. (2000) A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology55: 1467-1471.
19.
Goodenough, D.J., Fariello, R.G., Annis, B.L. and Chun, R.W. (1978) Familial and aquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features. Arch Neurol35: 827-831.
20.
Guerrini, R., Sanchez-Carpintero, R., Deonna, T., Santucci, M., Bhatia, K.P., Moreno, T. et al. (2000) Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia43(10): 1224-1229.
21.
Guerrini, R., Bonanni, P., Nardocci, N., Parmeggiani, M., Piccirilli, M., De Fusco, P. et al. (1999) 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 Neurol45: 344-352.
22.
Guerrini, R., Parmeggiani, L. and 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.
23.
Hoefele, K., Benecke, R. and Auburger, G. (1997) Gene locus FPD1 of the dystonic Mount-Reback type of autosomal dominant paroxysmal choreoathetosis. Neurology49: 1252-1256.
24.
Huang, Y.G., Chen, Y.C., Du, F., Li, R., Xu, G.L., Jiang, W. et al. (2005) Topiramate therapy for paroxysmal kinesigenic choreoathetosis. Mov Disord20(1): 75-77.
25.
Jankovic, J. and 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.
26.
Kamm, C., Mayer, P., Sharma, M., Niemann, G. and Gasser, T. (2007) New family with paroxysmal exercise induced dystonia and epilepsy. Mov Disord22(6): 873-877.
27.
Karakurum, B., Karatas, M. and Yildirim, T. (2003) Risperidone as an alternative treatment for paroxysmal kinesigenic dyskinesia. Neurol Sci24(2): 92-93.
28.
Kertesz, A. (1967) Paroxysmal kinesiogenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndromes. Description of 10 cases, included 1 autopsied. Neurology17: 680-690.
29.
Kikuchi, S., Shinpo, K., Moriwaka, F., Makita, Z., Miyata, T. and 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 Res57: 280-289.
30.
Lance, J.W. (1977) Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol2: 285-293.
31.
Lee, M.S. and Marsden, C.D. (1994) Movement disorders following lesions of the thalamus or subthalamic region. Mov Disor9: 493-507.
32.
Lee, W.L., Tay, A., Ong, H.T., Goh, L.M., Monaco, A.P. and 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 Genet103: 608-612.
33.
Lee, H.Y., Xu, Y., Huang, Y., Ahn, A.H., Auburger, G.W., Pandolfo, M. et al. (2004) The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet13: 3161-3170.
34.
Lim, E.C. and Wong, S. (2003) Posttraumatic paroxysmal exercise-induced dystonia: case report and review of the literature. Parkinsonism Related Disord9: 371-373.
35.
Loher, T.J., Krauss, J.K., Burgunder, J.M., Taub, E. and Siegfried, J. (2001) Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. Neurology56(2): 268-270.
36.
Lugaresi, E. and Cirignotti, F. (1981) Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome. Sleep4: 129-138.
37.
Matsuo, H., Kamakuro, K., Saito, M., Okano, M., Nagase, T., Tadano, Y. et al. (1999) Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. Arch Neurol56: 721-726.
38.
Meierkord, H., Fish, D.R., Smith, S.J.M., Scott, C.A., Shorvon, S.D. and Marsden, C.D. (1992) Is nocturnal dystonia a form of frontal lobe epilepsy ? Mov Disord7: 38-42.
39.
Mink, J.W. (2007) The paroxysmal dyskinesias. Current Opin Pediatr19: 652-656.
40.
Mirsattari, S.M., Berry, M.E., Holden, J.K., Ni, W., Nath, A. and Power, C. (1999) Paroxysmal dyskinesias in patients with HIV infection . Neurology52(1): 109-114.
41.
Mount, L.A. and Reback, S. (1940) Familial paroxysmal choreoathetosis. Arch Neurology Psychiatry44: 841-847.
42.
Nagao, M., Fujita, Y., Wakagayadhi, K., Nukaya, H., Kosuge, T. and Sugimura, T. (1986) Mutagens in coffee and other beverages. Environ Health Perspect67: 89-91.
43.
Nardocci, N., Fernandez-Alvarez, E., Wood, N.W., Spacey, S.D. and Richter, A. (2002) The paroxysmal dyskinesias. In: Guerrini, R.,Aicardi, J.,Andermann, F. and Hallett, M. (eds) Epilepsy and Movement Disorders . Cambridge University Press, Cambridge , pp. 125-139.
44.
Phillips, H.A., Scheffer, I.E., Berkovic, S.F., Holloway, G.E., Sutherland, G.R. and Mulley, J.C. (1995) Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Gen10: 117-118.
45.
Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D. et al. (1998) Autosomal dominant nocturnal frontal lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet63: 1108-1116.
46.
Rainier, S., Thomas, D., Tokarz, D., Ming, L., Bui, M., Plein, E. et al. (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol61: 1025-1029.
47.
Raskind, W.H., Bolin, T., Wolff, J., Fink, J., Matsushita, M., Litt, M. et al. (1998) Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5 cM region on chromosome 2q34. Hum Genet102: 93-97.
48.
Scheffer, I.E., Bhatia, K.P. and Lopes-Cendes, I. (1994) Autosomal dominant frontal lobe epilepsy misdiagnosed as a sleep disorder. Lancet343: 515-517.
49.
Scheffer, I.E., Bhatia, K.P. and Lopes-Cendes, I. (1995) Autosomal dominant nocturnal frontal lobe epilepsy. A distince clinical disorder. Brain118: 61-73.
50.
Spacey, S.D., Valente, M., Wali, G.M., Warner, T.T., Jarman, P.R., Schapira, A.H. et al. (2002) Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord17: 717-725.
Swoboda, K.J., Soong, B., McKenna, C., Brunt, E.R., Litt, M., Bale Jr, J.F. et al. (2000) Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology55: 224-230.
53.
Szepetowski, P., Rochette, J., Berquin, P., Piussan, C., Lathrop, G.M. and Monaco, A.P. (1997) Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet61: 889-898.
54.
Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M. et al. (1999) Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet65: 1688-1697.
55.
Tinuper, P., Cerullo, A., Cirignotti, F., Cortelli, P., Lugaresi, E. and Montagna, P. (1990) Nocturnal paroxysmal dystonia with short lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia31: 549-556.
56.
Tsai, J.D., Chou, I.C., Tsai, F.J., Kuo, H.T. and Tsai, C.H. (2005) Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis. Acta Paediatr Taiwan46(3): 138-142.
57.
Tsao, C.Y. (2004) Effective treatment with oxcarbazepine in paroxysmal kinesigenic choreoathetosis. J Child Neurol19(4): 300-301.
58.
Uberall, M.A. and Wenzel, D. (2000) Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis. Dev Med Child Neurol42(10): 699-700.
59.
Valente, E.M., Spacey, S.D., Wali, G.M., Bhatia, K.P., Dixon, P.H., Wood, N.W. et al. (2000) 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. Brain123 (Pt 10): 2040.
60.
Yamada, K., Goto, S., Soyama, N., Shimoda, O., Kudo, M., Kuratsu, J. et al. (2006) Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. Mov Disord21(4): 576-579.
