Fletcher N A, Harding A E, Marsden C D
University Department of Clinical Neurology, Institute of Neurology, London, England.
Mov Disord. 1991;6(4):310-4. doi: 10.1002/mds.870060407.
Age of onset and severity of idiopathic torsion dystonia (ITD) were studied in 100 British families containing 107 index cases and 79 secondary cases. Analysis of variance of these clinical features did not suggest that ITD is genetically heterogenous, and they were similar in Jewish and non-Jewish patients. Intrafamilial correlation for age of onset was low, particularly between parents and their offspring, suggesting that the ITD phenotype may be determined in part by nongenetic factors or an allelic modifying gene.
对100个英国家庭进行了研究,这些家庭中有107例索引病例和79例继发病例,研究了特发性扭转性肌张力障碍(ITD)的发病年龄和严重程度。对这些临床特征的方差分析并未表明ITD在遗传上是异质性的,犹太患者和非犹太患者的情况相似。发病年龄的家族内相关性较低,尤其是父母与其后代之间,这表明ITD表型可能部分由非遗传因素或等位修饰基因决定。