title: Paroxysmal tonic upward gaze complicating Angelman syndrome.
abstract: BACKGROUND
  Paroxysmal tonic upward gaze is a childhood oculomotor syndrome characterized by episodes of conjugate upward deviation of the eyes. Its pathogenesis is unknown, and the etiology is heterogeneous.
  
  
  METHODS
  We describe a 2-year-old girl with Angelman syndrome who developed paroxysmal tonic upward gaze at 9 months of age. She presented with developmental delay, blond hair, jerky movements, ataxia, and epilepsy. Genetic testing revealed a maternal deletion of 15q11-13, confirming Angelman syndrome.
  
  
  CONCLUSIONS
  This is the first report of Angelman syndrome complicated by paroxysmal tonic upward gaze. Both transient paroxysmal tonic upward gaze and Angelman syndrome have been associated with dopaminergic neurons. We speculate that the dopaminergic abnormalities present in Angelman syndrome may cause paroxysmal tonic upward gaze.
authors.affiliation: Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan. Electronic address: fukumura@sapmed.ac.jp.
authors.forename: Shinobu
authors.initials: S
authors.lastname: Fukumura
authors.affiliation: Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.
authors.forename: Toshihide
authors.initials: T
authors.lastname: Watanabe
authors.affiliation: Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.
authors.forename: Rumiko
authors.initials: R
authors.lastname: Takayama
authors.affiliation: Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tsutsumi
mesh_terms: D017204:Angelman Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D015835:Ocular Motility Disorders / Q000150:complications* / Q000235:genetics / Q000503:physiopathology
keywords: Angelman syndrome; chromosome 15; movement disorder; paroxysmal tonic upward gaze