Paroxysmal dyskinesias

Movement Disorders

Volumn 26, Issue 6, 2011, Pages 1157-1165

  Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Dystonia; GLUT 1; MR 1 gene; Paroxysmal; PED; PKD; PNKD

Indexed keywords

ACETAZOLAMIDE; ANTICONVULSIVE AGENT; BARBITURIC ACID DERIVATIVE; BENZODIAZEPINE; CAFFEINE; CARBAMAZEPINE; HYDANTOIN; HYDROXYACYLGLUTATHIONE HYDROLASE; LEVODOPA; PHENYTOIN; TOPIRAMATE; TRIHEXYPHENIDYL;

ALCOHOL CONSUMPTION; ATAXIA; CHOREOATHETOSIS; CLINICAL CLASSIFICATION; CLINICAL FEATURE; DYSARTHRIA; DYSKINESIA; ELECTROENCEPHALOGRAM; GENE MUTATION; LIFE EXPECTANCY; MYOKYMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PAROXYSMAL DYSKINESIA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; VERTIGO; VISUAL DISORDER;

CHOREA; HISTORY, 20TH CENTURY; HISTORY, 21ST CENTURY; HUMANS;

EID: 79957599929     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23765     Document Type: Review

References (83)

1. Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, eds. Movement Disorders. Oxford, UK: Butterworth Heinmann Ltd.; 1994: 310-345.
2. Bhatia KP. Familial (idiopathic) paroxysmal dyskinesias: an update. Semin Neurol 2001; 21: 69-74.
3. Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38: 571-579.
4. Blakeley J, Jankovic J. Secondary paroxysmal dyskinesias. Mov Disord 2002; 17: 726-734.
5. Mount LA, Reback S. Familial paroxysmal choreoathetosis. Arch Neurol. Psych 1940; 44: 841-847.
6. Bressman SB, Fahn S, Burke RE. Paroxysmal non-kinesigenic dystonia. Adv Neurol 1988; 50: 403-413.
7. Forsman H. Hereditary disorder characterized by attacks of muscular contractions, induced by alcohol amongst other factors. Acta Med Scand 1961; 170: 517-533
8. Richards RN, Barnett HJ. Paroxysmal dystonic choreoathetosis. A family study and review of the literature. Neurology 1968; 18: 461-469.
9. Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology 1967; 17: 680-690.
10. Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977; 2: 285-293.
11. Houser MK, Soland VL, Bhatia KP, Quinn NP, Marsden CD. Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. J Neurol 1999; 246: 120-126.
12. Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280-2287.
13. Lishman WA, Symonds CP, Whitty CW, Willison RG. Seizures induced by movement. Brain 1962; 85: 93.
14. Sadamatsu M, Masui A, Sakai T, Kunugi H, Nanko S, Kato N. Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. Epilepsia 1999; 40: 942-949.
15. Hirata K, Katayama S, Saito T, et al. Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. Epilepsia 1991; 32: 492-494.
16. Lombroso CT. Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? Ital J Neurol Sci 1995; 16: 271-277.
17. Ohmori I, Ohtsuka Y, Ogino T, et al. The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. Neuropediatrics 2002; 33: 15-20.
18. Kang SY, Sohn YH, Kim HS, Lyoo CH, Lee MS. Corticospinal disinhibition in paroxysmal kinesigenic dyskinesia. Clin Neurophysiol 2006; 117: 57-60.
19. Mir P, Huang YZ, Gilio F, et al. Abnormal cortical and spinal inhibition in paroxysmal kinesigenic dyskinesia. Brain 2005; 128: 291-299.
20. Ko CH, Kong CK, Ngai WT, Ma KM. Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis. Pediatr Neurol 2001; 24: 225-227.
21. Joo EY, Hong SB, Tae WS, Kim JH, Han SJ, Seo DW, et al. Perfusion abnormality of the caudate nucleus in patients with paroxysmal kinesigenic choreoathetosis. Eur J Nucl Med Mol Imaging 2005; 32: 1205-1209.
22. Nagamitsu S, Matsuishi T, Hashimoto K, et al. Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis. Mov Disord 1999; 14: 658-663.
23. Swoboda KJ, Soong B, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2000; 55: 224-230.
24. Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007; 52: 334-341.
25. Valente EM, Spacey SD, Wali GM, et al. 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 2000; 123: 2040-2045.
26. Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. Mov Disord 2002; 17: 717-725.
27. Guerrini R, Bonanni P, Nardocci N, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999; 45: 344-352.
28. Lance JW. Sporadic and familial varieties of tonic seizures. J Neurol Neurosurg Psychiatry 1963; 26: 51-59.
29. Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68: 1782-1789.
30. Fink JK, Rainer S, Wilkowski J, et al. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Am J Hum Genet 1996; 59: 140-145.
31. Auburger G, Ratzlaff T, Lunkes A, et al. 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 1996; 31: 90-94.
32. Suls A, Dedeken P, Goffin K, et al., Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008; 131: 1831-44.
33. Rainier S, Thomas D, Tokarz D, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004; 61: 1025-1029
34. Lombroso CT, Fischman A. Paroxysmal non-kinesigenic dyskinesia: pathophysiological investigations. Epileptic Disord 1999; 1: 187-193.
35. del Carmen Garcia M, Intruvini S, Vazquez S, et al. Ictal SPECT in paroxysmal non-kinesigenic dyskinesia. Case report and review of the literature. Parkinsonism Relat Disord 2000; 6: 119-121.
36. Bohnen NI, Albin RL, Frey KA, et al. (+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis. Neurology 1999; 52: 1067-1069.
37. Zorzi G, Conti C, Erba A, et al. Paroxysmal dyskinesias in childhood. Pediatr Neurol 2003; 28: 168-172.
38. Hempelmann A, Kumar S, Muralitharan S, Sander T. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett 2006; 402: 118-120.
39. Stefanova E, Djarmati A, Momcilovic D, et al. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Mov Disord 2006; 21: 2010-2015.
40. Lee HY, Xu Y, Huang Y, et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004; 13: 3161-3170.
41. Plant GT, Williams AC, Earl CJ, Marsden CD. Familial paroxysmal dystonia induced by exercise. J Neurol Neurosurg Psychiatry 1984; 47: 275-279.
42. Bhatia KP, Soland VL, Bhatt MH, Quinn NP, Marsden CD. Paroxysmal exercise-induced dystonia: eight new sporadic cases and a review of the literature. Mov Disord 1997; 12: 1007-1012.
43. Wali GM. Paroxysmal hemidystonia induced by prolonged exercise and cold. J Neurol Neurosurg Psychiatry 1992; 55: 236-237.
44. Bhatia KP. The paroxysmal dyskinesias. J Neurol 1999; 246: 149-155.
45. Nardocci N, Lamperti E, Rumi V, et al. Typical and atypical forms of paroxysmal choreoathetosis. Dev Med Child Neurol 1989; 31: 670-674.
46. Munchau A, Valente EM, Shahidi GA, et al. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. J Neurol Neurosurg Psychiatry 2000; 68: 609-614.
47. Neville BG, Besag FM, Marsden CD. Exercise induced steroid dependent dystonia, ataxia, and alternating hemiplegia associated with epilepsy. J Neurol Neurosurg Psychiatry 1998; 65: 241-244.
48. Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord 2003; 18: 1545-1547.
49. Margari L, Perniola T, Illiceto G, et al. Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. Neurol Sci 2000; 21: 165-172.
50. Meyer BU, Irlbacher K, Meierkord H. Analysis of stimuli triggering attacks of paroxysmal dystonia induced by exertion. J Neurol Neurosurg Psychiatry 2001; 70: 247-251.
51. Rona S, Berardelli A, Vacca L. Alteration of motor cortical inhibition in patients with dystonia. Mov Disord 1998; 13: 118-124.
52. Kluge A, Kettner B, Zschenderlein R, et al. Changes in perfusion pattern using ECD-SPECT indicate frontal lobe and cerebellar involvement in exercise-induced paroxysmal dystonia. Mov Disord 1998; 13: 125-134.
53. Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and a cation leak of this glucose transporter is linked to hemolytic anemia. J Clin Invest 2008; 118: 2157-2168
54. Zorzi G, Castellotti B, Zibordi F, Gellera C, Nardocci N. Paroxysmal movement disorders in GLUT1 deficiency syndrome. Neurology 2008; 71: 146-148.
55. Schneider SA, Paisan-Ruiz C, Garcia-Gorostiaga I, e. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009; 24: 1684-16688.
56. Guerrini R, Parmeggiani L, Bonanni P, Carrozzo R, Casari G. Locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 2000; 55: 738-739.
57. Guimaraes J, Vale-Santos JE. Paroxysmal dystonia induced by exercise and acetazolamide. Eur J Neurol 2000; 7: 237-240.
58. Bhatia KP, Marsden CD, Thomas D. Posteroventral pallidotomy can ameliorate attacks of paroxysmal dystonia induced by exercise. J Neurol Neurosurg Psychiatry 1998; 65: 604-605.
59. Sethi K, Lee KH, Deuskar V, et al. Orthostatic paroxysmal dystonia. Mov Disord 2002; 17: 841-845.
60. Ishida T, Hattori S, Ueda T, et al. Benign paroxysmal torticollis in infancy: case report. No To Hattatsu 1990; 22: 274-278.
61. Menkes JH, Ament ME. Neurologic disorders of gastroesophageal function. Adv Neurol 1988; 49: 409-416.
62. Guerrero VJ, de Paz AP, Luengo Casasola JL, et al. [Benign infantile paroxysmal torticollis. Apropos of 3 cases]. An Esp Pediatr 1988; 29: 149-152.
63. Giffin NJ, Benton S, Goadsby PJ. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol 2002; 44: 490-493.
64. Klein A, Boltshauser E, Jen J, Baloh RW. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. Neuropediatrics 2004; 35: 147-149.
65. Brandt T, Strupp M. Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). Audiol Neurootol 1997; 2: 373-383.
66. Strupp M, Kalla R, Dichgans M, Freilinger T, Glasauer S, Brandt T. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 2004; 62: 1623-1625.
67. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007; 130: 2484-2493.
68. Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001; 57: 1499-1502.
69. Cader MZ, Steckley JL, Dyment DA, McLachlan RS, Ebers GC. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 2005; 65: 156-158.
70. Farmer T, Mustian VM. Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations [Abstract]. Arch Neurol 1963; 8: 471-480.
71. Vance J, Pericak-Vance M, Payne CS, Coin J, Olanow CW. Linkage and genetic analysis in adult onset periodic vestibulo-cerebellar ataxia: report of a new family [Abstract]. Am J Hum Genet 1984; 36(78S).
72. Damji KF, Allingham RR, Pollock SC, et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 1996; 53: 338-344.
73. Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66: 1531-1539.
74. Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005; 65: 529-534.
75. Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol 2007; 64: 749-752.
76. Lispi ML, Vigevano F. Benign paroxysmal tonic upgaze of childhood with ataxia. Epileptic Disord 2001; 3: 203-206.
77. Ouvrier RA, Billson F. Benign paroxysmal tonic upgaze of childhood. J Child Neurol 1988; 3: 177-180.
78. Merino-Andreu M, Arcas J, al Linares E, Tendero A, Roche-Herrero MC, Martinez-Bermejo A. [Is benign childhood paroxysmal eye deviation a non-epileptic disorder?]. Rev Neurol 2004; 39: 129-132.
79. Verrotti A, Trotta D, Blasetti A, Lobefalo L, Gallenga P, Chiarell F. Paroxysmal tonic upgaze of childhood: effect of age-of-onset on prognosis. Acta Paediatr 2001; 90: 1343-1345.
80. Keane JR. Galloping tongue: post-traumatic, episodic, rhythmic movements. Neurology 1984; 34: 251-252.
81. Kim DG, Oh SH, Kim HS, Kim WC, Kim OJ, Jeon TJ. Episodic dystonic spasm of the bilateral edge of the tongue during a coma following anoxic encephalopathy. J Clin Neurosci 2009; 16: 1252-1253.
82. Li JY, Lee CH. Episodic tongue hyperkinesias and alternating limb movements associated with basilar artery ischemia. Mov Disord 2009; 24: 1249-1251.
83. Edwards M, Schott G, Bhatia K. Episodic focal lingual dystonic spasms. Mov Disord 2003; 18: 836-837.