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原发性震颤家族史数据的有效性。

Validity of family history data on essential tremor.

作者信息

Louis E D, Ford B, Wendt K J, Ottman R

机构信息

Department of Neurology, the Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA.

出版信息

Mov Disord. 1999 May;14(3):456-61. doi: 10.1002/1531-8257(199905)14:3<456::aid-mds1011>3.0.co;2-x.

Abstract

BACKGROUND

In family studies of essential tremor (ET), valid data on the presence of ET in relatives of probands with ET is important. The family history method uses information obtained by interviewing probands with ET to identify ET in their relatives. The validation of this method by direct examination of the relatives has not been performed.

OBJECTIVE

To determine the validity of family history data on ET in families in which the proband has ET.

METHODS

ET cases (probands) and their respective relatives were enrolled in a genetic study of ET in Washington Heights-Inwood, New York. Each underwent a tremor interview and videotaped examination. Two neurologists rated the severity of tremor and assigned diagnoses (ET versus normal). Probands were asked to identify their relatives who had ET. The validity of the probands' responses was tested against the neurologists' diagnoses.

RESULTS

There were 206 subjects: 46 ET cases and 160 relatives. Twelve (7.5%) of 160 relatives were diagnosed with ET (four definite ET and eight probable ET). Probands with ET reported that two of these 12 had tremor (sensitivity of probands' report = 16.7%). Six of the 12 affected relatives (50.0%) reported their own tremor. The probands reported that one of 136 of their unaffected relatives had tremor (specificity of probands' report = 99.3%).

CONCLUSIONS

For family studies of ET, information on reportedly unaffected relatives is of limited use given the low sensitivity of family history data. The neurologic examination remains the only valid means of ascertaining cases of ET among relatives.

摘要

背景

在特发性震颤(ET)的家系研究中,关于ET先证者亲属中ET存在情况的有效数据很重要。家族史方法利用通过访谈ET先证者获得的信息来识别其亲属中的ET。尚未通过对亲属的直接检查来验证该方法。

目的

确定在有ET先证者的家庭中,ET家族史数据的有效性。

方法

ET病例(先证者)及其各自的亲属参与了纽约华盛顿高地 - 因伍德的ET基因研究。每个人都接受了震颤访谈和录像检查。两位神经科医生对震颤的严重程度进行评分并给出诊断(ET与正常)。先证者被要求识别其患有ET的亲属。将先证者的回答的有效性与神经科医生的诊断进行对照测试。

结果

共有206名受试者:46例ET病例和160名亲属。160名亲属中有12名(7.5%)被诊断为ET(4例确诊ET和8例可能ET)。患有ET的先证者报告称这12名中有2名有震颤(先证者报告的敏感性 = 16.7%)。12名受影响的亲属中有6名(50.0%)报告了自己的震颤。先证者报告称其136名未受影响的亲属中有1名有震颤(先证者报告的特异性 = 99.3%)。

结论

对于ET的家系研究,鉴于家族史数据的低敏感性,关于据报道未受影响亲属的信息用途有限。神经系统检查仍然是确定亲属中ET病例的唯一有效方法。

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