Paroxystic dyskinesias in children;Discinesia paroxística en la infancia

Revista de Neurologia

Volumn 38, Issue 1, 2004, Pages 53-57

  Temudo, Teresa ^a  

^a HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

Benign torticollis; Epilepsy; Ion channel; Kinesigenic; Paroxysmal dyskinesia; Tonic upgaze deviation

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; CLONAZEPAM; HALOPERIDOL; ION CHANNEL; LEVODOPA; OXAZEPAM; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; TRIHEXYPHENIDYL; VALPROIC ACID;

AGE; BASAL GANGLION; BRAIN CORTEX; CHILD; CLINICAL FEATURE; DYSKINESIA; EPILEPSY; FAMILY; GAZE; GENE MUTATION; HEREDITY; HUMAN; MOTOR DYSFUNCTION; PATHOPHYSIOLOGY; REVIEW; TORTICOLLIS;

EID: 1342279337     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3801.2003005     Document Type: Review

References (49)

1. Mount LA, Reback S. Familial paroxysmal choreoathetosis. Arch Neurol Psychiatr 1940; 44: 841-7.
2. Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including one autopsied. Neurology 1967; 17: 680-90.
3. Lance W. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol 1977; 2: 285-93.
4. Demirkirian M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995; 38: 571-9.
5. Fernández-Álvarez E, Aicardi J. Paroxysmal dyskinesias. In Fernández-Álvarez E, Aicardi J, eds. Movement disorders in children. Mac Keith Press/INCA; 2001. p. 156-64.
6. Jarman PR, Davis MB, Hodgson SV, Marsden C, Wood N. Paroxysmal dystonic choreoathetosis: genetic linkage studies in a British family. Brain 1997; 120: 2125-30.
7. Fouad GT, Servidei S, Durcan S, Bertini E, Ptacek LJ. A gene for familial paroxysmal dyskinesia maps to chromosome 2q. Am J Hum Genet 1996; 59: 135-9.
8. Nagamitsu S, Matsuishi T, Hashimoto K, Yamashita Y, Aihara M, Shimizu K, et al. Multicenter study of paroxysmal dyskinesias in Japan -clinical and pedigree analysis. Mov Disord 1999; 14: 658-63.
9. Tamita H, Nagamitsu S, Wakvi K, Fukushima Y, Yamada K, Sadamatsu M, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 1611.2-q12.1. Am J Hum Genet 1999; 65: 1688-97.
10. Bennet LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology. 2000; 54: 125-30.
11. Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, 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: 2040-5.
12. Deonna T, Roulet E, Ghika J, Zegiger P. Dopa-responsive childhood dystonia: a formes frustes with writer's cramp, triggered by exercise. Dev Med Child Neurol 1997; 39: 49-53.
13. Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep 1981; 4: 129-38.
14. Timuper P, Cerullo A, Cirignotti F, Cortelli P, Lugaresi E, Montagna P. Nocturnal paroxysmal dystonia with short lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990; 31: 549-56.
15. Meierkord H, Fish DR, Smith SJM, Scott CA, Shorvon SD, Marsden CD. Is nocturnal dystonia a form of frontal lobe epilepsy? Mov Disord 1992; 7: 38-42.
16. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Anderman E, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995; 118: 61-73.
17. Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop G, Monaco A. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human cromossome16. Am J Hum Genet 1997; 61: 889-98.
18. Guerrini R, Bonanni P, Nardocci N, Parmaggiani L, Piccurilli M, De Fusco M, et al. Autosomal recessive epilepsy and paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p 12-11.2. Ann Neurol 1999; 45: 344-52.
19. Guerrini R, Sánchez-Carpintero R, Deonna T, Santucci M, Bhatia K, Moreno T, et al. Early onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 2002; 43: 1224-9.
20. Auburger G, Ratzlaff T, Lunkes A, Nelles HU, Leube B, Binkofski F, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity maps to the vicinity of a potassium channel gene cluster on chromosome 1P, probably within 2cM between D15443 and D15197. Genomics 1996; 31: 90-4.
21. Hanukoglu A, Somekh E, Fried D. Benign paroxysmal torticollis in infancy. Clin Pediatr 1984; 23: 227-4.
22. Cataltepe SU, Barron TF. Benign paroxysmal torticollis presenting as 'seizures' in infancy. Clin Pediatr 1993; 32: 564-5.
23. Ouvrier RA, Billson F. Benign paroxysmal tonic upgaze of childhood. J Child Neurol 1988; 3: 177-80.
24. Haynman M, Harvey AS, Hopkins IJ, Kornberg MB, Coleman BS, Shield LK. Paroxysmal tonic upgaze: a reappraisal of outcome. Ann Neurol 1998; 43: 514-20.
25. Ahn JC, Hoyt WF, Hoyt CS. Tonic upgaze in infancy. Arch Ophthalmol 1989; 107: 57-8.
26. Deonna T, Roulet E, Meyer HU. Benign paroxysmal tonic upgaze of childhood. A new syndrome. Neuropediatrics 1990; 21: 213-4.
27. Echenne B, Rivier F. Benign paroxysmal tonic upward gaze. Pediatric Neurol 1992; 9: 159.
28. Campistol J, Prats JM, Garaizer C. Benign paroxysmal tonic upgaze of childhood with ataxia. A neuroophtalmological syndrome of familial origin? Dev Med Child Neurol 1993; 35: 436-9.
29. Merchut MP, Brumlik J. Painful tonic spasms caused by putaminal infarction. Stroke 1986; 17: 1319-21.
30. Camac A, Greene P, Khandiji A. Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct. Mov Disord 1990; 5: 235-8.
31. Burguera JA. Thalamic demyelination and paroxysmal dystonia in multiple sclerosis. Mov Disord 1991; 6: 379-81.
32. Miley CE, Forster FM. Paroxysmal signs and symptoms in multiple sclerosis. Neurology 1974; 24: 458-61.
33. Rosen JA. Paroxysmal choreoathetosis associated with perinatal hypoxic encephalopathy. Arch Neurol 1979; 6: 463-4.
34. Robin JJ. Paroxysmal choreoathetosis following head injury. Ann Neurol 1977; 2: 447-8.
35. Clarck JD, Pahwa R, Koller WC, Morales D. Diabetes mellitus presenting as paroxysmal kinesigenic choreoathetosis. Mov Disord 1995; 10: 353-5.
36. Cavanagh NPC, Bicknell J, Howard F. Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers. Arch Dis Child 1974; 49: 662-4.
37. Temudo T, Poças F, Martins E, Cruz R, Vilarinho L. Maple syrup disease presenting as paroxysmal dystonia. J Ped Neurol 2001; 5: 87 [abstract].
38. Brandt NJ, Rasmussen K, Brandt S, Kolvraas S, Schonhyder FI. D-glyceric-acidaemia and non-ketotic hyperglycinaemia. Clinical and laboratory findings in a new syndrome. Acta Pediatr Scand 1976; 65: 1-22.
39. Blass JP, Kark RAP, Engel WK. Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch Neurol 1971; 25: 449-60.
40. Uriz MS, Fernández-Alvarez E. Discinesia paroxística. Un efecto secundario poco común de las hidantoínas. Rev Esp Pediatr 1988; 44: 413-5.
41. Chudnow RS, Dewey RB, Lawson CR. Choreoathetosis as a side effect of gabapentine therapy in severely neurologically impaired patients. Arch Neurol 1997; 54: 910-2.
42. Newman RP, Kinkel WR. Paroxysmal choreoathetosis due to hypoglycemia. Arch Neurol 1984; 41: 341-2.
43. Tabae-Zadeh MJ, Frame B, Kapphahn K. Kinesigenic choreoathetosis and idiopathic hypoparathyroidism. N Engl J Med 1972; 286: 762-3.
44. Micheli F, Fernández-Pardal MM, Casas Parera IF, Giannaula RJ. Paroxysmal dystonic choreoathetosis associated with basal calcifications. Ann Neurol 1986; 20: 750.
45. Fishbeck KH, Layzer RB. Paroxysmal choreoathetosis associated with thyrotoxicosis. Ann Neurol 1979; 6: 453-4.
46. Hart YM, Farrel K, Tampieri D. Symptomatic alternating paroxysmal dystonia and hemiplegia. In Anderman E, Aicardi J, Vigevano F, eds. Alternating hemiplegia in childhood. New York: Raven Press; 1995. p. 159-64.
47. Guerrini R. Idiopathic epilepsy and paroxysmal dyskinesia. Epilepsia 2001; 42 (Suppl 3): 36-41.
48. Ptacek LJ. Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system. Dig Dis Sci 1999; (Suppl 8): S94-6.
49. Cooper EC, Jan LY. Ion channel genes and human neurological disease: recent progress, prospects, and challenges. Proc Natl Acad Sci U S A 1999; 96: 4759-66.