Suppr超能文献

抽动秽语综合征中基因组印记的临床证据。

Clinical evidence of genomic imprinting in Tourette's syndrome.

作者信息

Lichter D G, Jackson L A, Schachter M

机构信息

Department of Neurology, SUNY, Buffalo, NY 14215, USA.

出版信息

Neurology. 1995 May;45(5):924-8. doi: 10.1212/wnl.45.5.924.

Abstract

Recent genetic studies of Tourette's syndrome (TS) have suggested a sex-specific expression of TS behaviors but not a sex-associated difference in their transmission. In a retrospective study designed to assess the influence of gender of the affected parent on childhood TS phenotype, we compared unmedicated TS subjects with patrilineal (n = 25) or matrilineal (n = 25) inheritance of TS, as determined by family history methodology, with respect to demographic variables, temporal profile of tic evolution, and clinical ratings of tics and associated behaviors, particularly obsessive-compulsive symptoms and attention deficit hyperactivity disorder (ADHD). Maternal transmission of TS was characterized by trends toward greater motor tic complexity and more frequent noninterfering rituals (p < 0.05); paternal transmission was associated with increased vocal tic frequency (p = 0.01), an earlier onset of vocal tics relative to motor tics (p < 0.01), and more prominent ADHD behaviors, including motor restlessness (p < 0.01). These findings are consistent with genomic imprinting in TS. Confirmation of this phenomenon promises not only to advance understanding concerning the genetic link between TS and ADHD but may also help to explain the apparent fit of competing models of genetic transmission in TS.

摘要

近期对抽动秽语综合征(TS)的遗传学研究表明,TS行为存在性别特异性表达,但在其遗传方面不存在与性别相关的差异。在一项旨在评估患病父母性别对儿童TS表型影响的回顾性研究中,我们根据家族史方法,将未用药的TS患者按照TS的父系遗传(n = 25)或母系遗传(n = 25)进行分组,比较了两组在人口统计学变量、抽动演变的时间特征以及抽动和相关行为(尤其是强迫症状和注意力缺陷多动障碍(ADHD))的临床评分方面的差异。母系遗传的TS表现为运动性抽动复杂性增加和非干扰性仪式行为更频繁的趋势(p < 0.05);父系遗传与发声性抽动频率增加(p = 0.01)、发声性抽动相对于运动性抽动更早发作(p < 0.01)以及更突出的ADHD行为(包括运动不安)(p < 0.01)相关。这些发现与TS中的基因组印记现象一致。对这一现象的证实不仅有望推进对TS与ADHD之间遗传联系的理解,还可能有助于解释TS中相互竞争的遗传传递模型的明显契合度。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验