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《关于精神疾病的遗传与起源的研究。I. 早发性痴呆的遗传与原发性起源》(1916年)的摘要与述评

Abstract and review of "Studien Uber Vererbung und Entstehung Geistiger Störungen. I. Zur Vererbung und Neuentstehung der Dementia praecox." (Studies on the inheritance and origin of mental illness: I. To the problem of the inheritance and primary origin of dementia praecox). 1916.

作者信息

Kendler K S, Zerbin-Rüdin E

机构信息

Department of Psychiatry, Medical College of Virginia, Virginia Commonwealth University, Richmond 23298, USA.

出版信息

Am J Med Genet. 1996 Jul 26;67(4):338-42. doi: 10.1002/(SICI)1096-8628(19960726)67:4<338::AID-AJMG4>3.0.CO;2-I.

DOI:10.1002/(SICI)1096-8628(19960726)67:4<338::AID-AJMG4>3.0.CO;2-I
PMID:8837699
Abstract

The first major family study of schizophrenia, reported by Ernst Rüdin in 1916, examined 2,732 siblings of 755 probands, diagnosed according to the teachings of Kraepelin. This study, the goal of which was to see whether the segregation pattern of schizophrenia in siblings conformed to simple mendelian expectations, was the first in psychiatry to use systematic ascertainment, proband correction and calculation of an age corrected risk of illness--the morbid risk (MR). The MR for narrowly and broadly defined schizophrenia in this sample can be calculated to equal 5.4 and 7.7%. "Other psychoses"--a heterogeneous category--were also common in these siblings (a MR of 5.1%). In a small sample of half-siblings, the MR for narrowly defined schizophrenia was quite low (0.6%). The risk for schizophrenia in siblings was significantly increased by a parental diagnosis of alcoholism, a history of schizophrenia in second or third degree relatives, and, particularly, by a parental diagnosis of "other psychoses." No evidence was found for sex-specific transmission of schizophrenia in these sibships. The MR for narrowly and broadly definite schizophrenia in parents of these probands can be estimated to be 2.3% and 3.9%, respectively. In accord with more recent studies, Rüdin found i) a familial relationship between schizophrenia and other psychoses ii) a substantially lower risk for schizophrenia in parents vs. siblings and iii) a segregation pattern of schizophrenia in siblings that did not conform to that expected for a simple mendelian disorder.

摘要

1916年恩斯特·吕丁报告的第一项关于精神分裂症的大型家族研究,对755名先证者的2732名兄弟姐妹进行了检查,这些先证者是根据克雷佩林的学说诊断出来的。这项研究的目的是观察精神分裂症在兄弟姐妹中的分离模式是否符合简单的孟德尔遗传预期,它是精神病学中第一项使用系统确定、先证者校正以及计算年龄校正疾病风险——发病风险(MR)的研究。该样本中狭义和广义精神分裂症的发病风险经计算分别为5.4%和7.7%。“其他精神病”——一个异质性类别——在这些兄弟姐妹中也很常见(发病风险为5.1%)。在一小半同胞样本中,狭义精神分裂症的发病风险相当低(0.6%)。父母患有酒精中毒、二级或三级亲属有精神分裂症病史,尤其是父母被诊断为“其他精神病”,会显著增加兄弟姐妹患精神分裂症的风险。在这些同胞关系中未发现精神分裂症存在性别特异性遗传的证据。这些先证者父母中狭义和广义精神分裂症的发病风险估计分别为2.3%和3.9%。与最近的研究一致,吕丁发现:i)精神分裂症与其他精神病之间存在家族关系;ii)父母患精神分裂症的风险明显低于兄弟姐妹;iii)兄弟姐妹中精神分裂症的分离模式不符合简单孟德尔疾病的预期模式。

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