PAROXYSMAL TONIC UPGAZE OF CHILDHOOD WITH ATAXIA - A BENIGN TRANSIENTDYSTONIA WITH AUTOSOMAL-DOMINANT INHERITANCE

Paroxysmal tonic upgaze of childhood with ataxia is a rare form of age related dystonia. Out of 12 previously reported cases, three had a cl inical history of similar symptoms occurring in at least one first deg ree relative belonging to the same or two consecutive generations. Aut osomal dominant inheritance was therefore hypothesized. We report on a family in which the disorder appeared in three consecutive generation s between ages 6 and 11 months, disappearing gradually and spontaneous ly between ages 18 to 24 months. All affected individuals had normal n eurologic development. The pedigree analysis of previously reported ca ses and of the family reported herein provides strong evidence that th e disorder may be inherited as an autosomal dominant trait and represe nts a form of transient paroxysmal dystonia with benign long-term prog nosis. (C) 1998 Elsevier Science B.V.