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抽动秽语综合征的双系遗传

Bilineal transmission in Tourette syndrome.

作者信息

Hanna P A, Janjua F N, Contant C F, Jankovic J

机构信息

Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX 77030, USA.

出版信息

Neurology. 1999 Sep 11;53(4):813-8. doi: 10.1212/wnl.53.4.813.

Abstract

OBJECTIVE

To investigate the frequency and pattern of bilineal transmission in families of patients with Tourette syndrome (TS) compared with normal control subjects.

METHODS

The study population consisted of two groups: 1) consecutive patients with TS with both parents (51 family sets; 153 individuals), and 2) normal control subjects randomly selected from public schools (20 family sets; 60 individuals). All patients with TS, normal control subjects, and their parents were evaluated for evidence of TS and associated features. Structured interviews and detailed questionnaires designed to assess tics, obsessive-compulsive behavior (OCB), and attention deficit disorder (ADD) were administered to all people in both groups.

RESULTS

In addition to tics, 43 (84.3%) patients with TS had ADD, 33 (64.7%) had OCB, and 31 (60.8%) had both ADD and OCB. In 42 (82.4%) of the 51 patients, at least one parent exhibited features of TS; unilineal transmission (only one parent with tics, OCB, or ADD) was present in 29 (56.9%) TS families and an additional 13 (25.5%) TS families manifested evidence of bilineal transmission (both parents affected). More fathers than mothers of patients with TS had tics (31.4% versus 15.7%), whereas more mothers had OCB than did fathers (33.3% versus 15.7%). Features of ADD were equally distributed among fathers (35.3%) and mothers (33.3%) of patients with TS. Eight of 1,142 (0.7%) children in the general school population had some evidence of TS. One of 40 parents of the normal control subjects (2.5%) had symptoms of ADD, but none of the parents of normal control subjects manifested any features of TS or OCB.

CONCLUSIONS

This study found evidence for bilineal transmission in one fourth of TS families. Features of the TS spectrum were rare in normal control families. Evidence of tics, OCB, and ADD should be investigated in both parents of patients with TS.

摘要

目的

与正常对照受试者相比,研究抽动秽语综合征(TS)患者家庭中的双系遗传频率和模式。

方法

研究人群包括两组:1)父母双方均有的连续性TS患者(51个家庭组;153人),以及2)从公立学校随机选取的正常对照受试者(20个家庭组;60人)。对所有TS患者、正常对照受试者及其父母进行评估,以寻找TS及相关特征的证据。对两组中的所有人进行结构化访谈,并使用旨在评估抽动、强迫行为(OCB)和注意力缺陷障碍(ADD)的详细问卷。

结果

除抽动外,43名(84.3%)TS患者有ADD,33名(64.7%)有OCB,31名(60.8%)既有ADD又有OCB。在51名患者中的42名(82.4%)中,至少有一位父母表现出TS的特征;29个(56.9%)TS家庭存在单系遗传(只有一位父母有抽动、OCB或ADD),另外13个(25.5%)TS家庭表现出双系遗传的证据(父母双方均受影响)。TS患者的父亲有抽动的比母亲多(31.4%对15.7%),而有OCB的母亲比父亲多(33.3%对15.7%)。TS患者的父亲(35.3%)和母亲(33.3%)中ADD特征的分布相同。普通学校人群中1142名儿童中有8名(0.7%)有TS的某些证据。正常对照受试者的40名父母中有1名(2.5%)有ADD症状,但正常对照受试者的父母均未表现出TS或OCB的任何特征。

结论

本研究发现四分之一的TS家庭中有双系遗传的证据。TS谱系特征在正常对照家庭中很少见。应对TS患者的父母双方进行抽动、OCB和ADD证据的调查。

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