Guerrini R, Belmonte A, Carrozzo R
Institute of Child Neurology and Psychiatry, University of Pisa, Calambrone, IRCCS Stella Maris, Italy.
Brain Dev. 1998 Mar;20(2):116-8. doi: 10.1016/s0387-7604(97)00109-5.
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.
伴有共济失调的儿童阵发性强直性上视是一种罕见的与年龄相关的肌张力障碍形式。在先前报道的12例病例中，有3例有临床病史，至少有一位属于同一代或连续两代的一级亲属出现过类似症状。因此推测为常染色体显性遗传。我们报告一个家族，该疾病在连续三代中出现在6至11个月大之间，在18至24个月大时逐渐自发消失。所有受影响个体的神经发育均正常。对先前报道病例和本文所报道家族的系谱分析提供了强有力的证据，表明该疾病可能作为常染色体显性性状遗传，代表一种具有良性长期预后的短暂性阵发性肌张力障碍形式。
