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

Renzo Guerrini, Anna Belmonte, Romeo Carrozzo

Research output: Contribution to journalArticle

23 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)116-118
Number of pages3
JournalBrain and Development
Volume20
Issue number2
DOIs
Publication statusPublished - Mar 1998

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Dystonia
Ataxia
Pedigree
Nervous System
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia

Keywords

  • Ataxia
  • Autosomal dominant
  • Childhood
  • Paroxysmal dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Paroxysmal tonic upgaze of childhood with ataxia : A benign transient dystonia with autosomal dominant inheritance. / Guerrini, Renzo; Belmonte, Anna; Carrozzo, Romeo.

In: Brain and Development, Vol. 20, No. 2, 03.1998, p. 116-118.

Research output: Contribution to journalArticle

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