The inheritance of Gilles de la Tourette's syndrome and associated behaviors. Evidence for autosomal dominant transmission.
The inheritance of Gilles de la Tourette's syndrome and associated behaviors. Evidence for autosomal dominant transmission.
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吉尔·德拉图雷特氏综合症的遗传和相关行为。
DOI：
10.1056/nejm198610163151604
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Leckman,JF
中科院分区：
文献类型：
--
作者：
Pauls,DL;Leckman,JF
我们通过对27个指征病例确定的30个核心家系进行分离分析，检验了有关抽动症传播方式的特定遗传假说。由于来自早期家庭研究的数据表明，慢性抽搐和强迫症可能是抽动症素质的替代表型表现，我们使用了三种诊断方案来确定受影响的家庭成员(仅抽动症；抽动症或慢性抽搐；以及抽动症、慢性抽搐或强迫症)。抽动症、慢性抽动症和强迫症患者AA、AA和AA(A代表异常等位基因)的外显率男性分别为1.000、1.000和0.002，女性分别为0.709、0.709和0.000。我们得出的结论是，我们的分析有力地支持了这样的假设，即在这些家庭中，强迫症与Tourette综合征和慢性抽搐有关，Tourette综合征是作为一种高度渗透性的、受性别影响的常染色体显性遗传的。(N Engl J Med 1986；315：993-7)
We examined specific genetic hypotheses about the mode of transmission of Gilles de la Tourette's syndrome, by performing segregation analyses in 30 nuclear families identified through 27 index cases. Because data from earlier family studies had suggested that chronic tics and obsessive–compulsive disorder may be alternative phenotypic expressions of the diathesis of Tourette's syndrome, we used three diagnostic schemes to specify affected family members (Tourette's syndrome only; Tourette's syndrome or chronic tics; and Tourette's syndrome, chronic tics, or obsessive–compulsive disorder). The estimates of penetrance for the genotypes AA, Aa, and aa (A denotes the abnormal allele) in the analyses of subjects with Tourette's syndrome, chronic tics, or obsessive–compulsive disorder were 1.000, 1.000, and 0.002, respectively, for male subjects and 0.709, 0.709, and 0.000 for female subjects. These results predict that approximately 10 percent of all patients are phenocopies.We conclude that our analyses provide strong support for the hypothesis that obsessive–compulsive disorder is etiologically related to Tourette's syndrome and chronic tics in these families, and that Tourette's syndrome is inherited as a highly penetrant, sex-influenced, autosomal dominant trait. (N Engl J Med 1986; 315:993–7.)