Paroxysmal tonic upgaze and partial tetrasomy of chromosome 15: A novel genetic association

Journal of Child Neurology

Volumn 20, Issue 2, 2005, Pages 165-168

  Joseph, Kevin ^a   Avallone, John ^a   Difazio, Marc ^a  

^a WALTER REED ARMY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; EUCHROMATIN; EYE MOVEMENT DISORDER; GAZE; HUMAN; INFANT; MALE; MOTOR RETARDATION; MUSCLE HYPOTONIA; PAROXYSMAL TONIC UPGAZE; PARTIAL TETRASOMY 15Q; PATHOPHYSIOLOGY; PRIORITY JOURNAL; TETRASOMY;

EID: 16844363192     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200021601     Document Type: Article

References (20)

1. Hayman M, Harvey AS, Hopkins IJ, et al: Paroxysmal tonic upgaze: A reappraisal or outcome. Ann Neurol 1998;43:514-520.
2. Ouvrier RA, Billson F: Benign paroxysmal tonic upgaze of childhood. J Child Neurol 1988;3:177-180.
3. Ahn J, Hoyt W, Hoyt C: Tonic upgaze in infancy: A report of three cases. Arch Ophthalmol 1989;107:57-58.
4. Apak R, Topcu M: A case of paroxysmal tonic upgaze of childhood with ataxia. Eur J Pediatr Neurol 1999;3:129-131.
5. Campistol J, Prats JM, Garaizar C: Benign paroxysmal tonic upgaze of childhood with ataxia: A neuro-ophthalmological syndrome with familial origin? Dev Med Child Neurol 1993;35:436-439.
6. Lispi M, Vigevano F: Benign paroxysmal tonic upgaze of childhood with ataxia. Epileptic Disord 2001;3:20:3-205.
7. Gieron M, Korthals J: Benign paroxysmal tonic upward gaze. Pediatr Neurol 1993;9:159.
8. Spalice A, Parisi P, Iannetti P: Paroxysmal tonic upgaze: Pathophysiological considerations in three additional cases. J Child Neurol 2000:15:15-18.
9. Sugie H, Sugie Y, Ito M, et al: A case of paroxysmal tonic upward gaze associated with psychomotor retardation. Dev Med Child Neurol 1995;37:362-365.
10. Rasmussen M, Kerty E: Benign paroxysmal tonic upgaze of a child with positive MRI findings. J Pediatr Ophthalmol Strabismus 1999;36: 164-166.
11. Deonna T, Meyer HU: Benign paroxysmal tonic upgaze of childhood - A new syndrome. Neuropediatrics 1990;21:213-214.
12. Echenne B, Rivier F: Benign paroxysmal tonic upward gaze. Pediatr Neurol 1992;8:154-155.
13. Kandel E, Schwartz J, Jessell T, et al: Principles of Neural Science. New York, McGraw-Hill, 2000.
14. Jacobs L, Heffner RR, Newman RP: Selective paralysis of downward gaze caused by bilateral lesions of the mesencephalic periaqueductal gray matter. Neurology 1985;35:516-521.
15. Skavensiki A, Robinson D: Role of abducens neurons in the vestibuloocular reflex. J Neurophysiol 1973;36:724-738.
16. Halmagyi G, Evans WA, Hallinan JM: Failure of downward gaze. Arch Neurol 1978;35:22-26.
17. De Lonlay M, Nassogne MC, Van Gennip AH, et al: Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis 2000;23:819-825.
18. Elcioglu N, Fear C, Berrry AC: Partial trisomy of 15q due to inserted inverted duplication. Clin Genet 1997;52:442-445.
19. Chandler K, Schrander-Stumperl CT, Engelen J, et al: Partial trisomy 15q: Report of a patient and literature review. Genet Couns 1997;8:91-97.
20. Ishikawa T, Inukai K, Kanayama M: Paradoxical eyelid movement in trisomy 2p. Pediatr Neurol 2002;26:236-238.