Giménez-Roldán S, López-Fraile I P, Esteban A
Adv Neurol. 1976;14:125-36.
A girl from a Spanish Gypsy family developed idiopathic torsion dystonia when 12 years old. Parents were first cousins and both the pattern of clinical involvement and the rate of progression corresponded to that usually found in the autosomal recessive form of the disorder. Serum dopamin-beta-hydroxylase activity in the patient and close family members were also in keeping with this hereditary form. A nationwide inquiry failed to detect further cases of torsion dystonia among Gypsies, but revealed a relatively large number of recessively inherited disorders of the nervous system in this inbred, genetically isolated population. Thirty-six additional cases of torsion dystonia were collected from the general Spanish population, including four with a family history for this condition. The gene responsible for the recessive illness appears to be rare in many countries, explaining the sporadic nature of the disorder and its eventual appearance only in genetic isolates or after consanguineous matings.
一名来自西班牙吉普赛家庭的女孩12岁时患上特发性扭转性肌张力障碍。父母是近亲，临床受累模式和疾病进展速度均与常染色体隐性遗传形式的疾病相符。患者及其近亲家庭成员的血清多巴胺β-羟化酶活性也与这种遗传形式一致。一项全国性调查未在吉普赛人中发现更多扭转性肌张力障碍病例，但显示在这个近亲繁殖、基因隔离的人群中存在相对大量的隐性遗传神经系统疾病。另外从西班牙普通人群中收集到36例扭转性肌张力障碍病例，其中4例有该病家族史。导致这种隐性疾病的基因在许多国家似乎很罕见，这解释了该疾病的散发性，以及它最终仅出现在基因隔离人群或近亲通婚之后的现象。
