PMID: 9545183Apr 17, 1998Paper

Paroxysmal tonic upgaze of childhood with ataxia: a benign transient dystonia with autosomal dominant inheritance

Brain & Development
R GuerriniR Carrozzo

Abstract

Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a clinical history of similar symptoms occurring in at least one first degree relative belonging to the same or two consecutive generations. Autosomal dominant inheritance was therefore hypothesized. We report on a family in which the disorder appeared in three consecutive generations between ages 6 and 11 months, disappearing gradually and spontaneously between ages 18 to 24 months. All affected individuals had normal neurologic development. The pedigree analysis of previously reported cases and of the family reported herein provides strong evidence that the disorder may be inherited as an autosomal dominant trait and represents a form of transient paroxysmal dystonia with benign long-term prognosis.

References

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Citations

Oct 9, 2002·Epilepsia·Renzo GuerriniBernardo Dalla Bernardina
May 18, 2012·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Cinzia SalminaGian Paolo Ramelli
Jun 20, 2007·Acta Paediatrica·L TitomanlioJ-C Mercier
Jun 22, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Cecilia BonnetEmmanuel Roze
Jan 18, 2015·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Lubov BlumkinTally Lerman-Sagie
Dec 3, 2014·Pediatric Neurology·Shinobu FukumuraHiroyuki Tsutsumi
Jan 21, 2000·Journal of Child Neurology·A SpaliceP Iannetti
Aug 14, 2003·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·F Rouveyrol, J L Stephan

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