The Genetics of Tourette Syndrome
The Genetics of Tourette Syndrome
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DOI：
10.1017/s1092852900000808
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发表时间：
1999-03
期刊：
影响因子：
3.3
通讯作者：
J. Alsobrook
中科院分区：
文献类型：
--
作者：
J. Alsobrook
摘要 抽动秽语综合征 (TS) 的家族性由 Georges Gilles de la Tourette 于 1885 年首次描述。自 20 世纪 70 年代以来对 TS 的正式研究一致表明，抽动秽语患者亲属中 TS 的风险增加。家庭研究、双胞胎研究和隔离分析都表明 TS 具有显着的遗传决定因素。这种传播方式虽然存在轻微争议，但一般认为至少有一个主要位点是由于外显率降低的常染色体显性性状遗传的，或者是一些杂合子个体表现出这种疾病的中间遗传性状遗传的。有证据表明 TS 症状包括慢性抽动和强迫症。 TS 的系统基因组连锁研究正在进行中。然而，迄今为止，尽管搜索包括了许多神经学相关的候选基因，但尚不存在显着的连锁发现。
ABSTRACT The familial nature of Tourette syndrome (TS) was first described by Georges Gilles de la Tourette in 1885. Formal investigations of TS since the 1970s have consistently demonstrated an increased risk for TS among relatives of patients with TS. Family studies, twin studies, and segregation analyses all indicate that TS has significant genetic determinants. The mode of transmission, while mildly controversial, is generally believed to be due to at least one major locus inherited either as an autosomal dominant trait with reduced penetrance, or as a trait with intermediate inheritance in which some heterozygotic persons manifest the disorder. There is evidence for a TS spectrum of symptoms that includes chronic tics and obsessive-compulsive disorder. Systematic genome linkage studies of TS are progressing. To date, however, no significant linkage findings exist, although the search has included many neurologically relevant candidate genes.