Department of Psychiatry, Virginia Institute of Psychiatric and Behavioral Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond, VA.
Schizophr Bull. 2020 Jul 8;46(4):758-764. doi: 10.1093/schbul/sbz131.
In 1917, Eugen Bleuler published an article (Mendelismus bei Psychosen, speziell bei der Schizophrenie [Mendelism in the Psychoses, especially Schizophrenia]) in response to the recently published first systematic family study of dementia praecox (DP) by Ernst Rüdin, then working under Kraepelin in Munich. Although briefly commented upon by David Rosenthal in 1978, this article has never been thoroughly reviewed or translated. Of the many themes addressed, four are especially noteworthy. First, Bleuler argues that understanding the transmission patterns of schizophrenia in families requires definitive knowledge about the boundaries of the phenotype which he argues are unknown. Rüdin's choice-Kraepelin's concept of DP-is, he asserts, too narrow. Clarifying the genetics of schizophrenia is inextricably bound up with the problem of defining the phenotype. Second, Bleuler argues for the importance of "erbschizose" (literally "inherited schizoidia") wondering whether his "4 As" or other "brain-anatomical, chemical, [or] neurological characteristics" might underlie the genetic transmission of schizophrenia. Third, Bleuler was deeply interested in the nature of the onset of schizophrenia, suggesting that environmental adversity could provoke "latent illness to become manifest." It was important, he argued, to identify such risk factors and incorporate them into genetic models. Fourth, although not optimistic that current knowledge would permit a resolution of the transmission model for schizophrenia, he finds single-locus models implausible and at several points wonders whether polygenic models might better apply. A complete translation of the article is provided.
1917 年，Eugen Bleuler 发表了一篇文章（《精神病中的孟德尔主义，尤其是精神分裂症》），回应了当时由恩斯特·吕丁（Ernst Rüdin）在慕尼黑跟随克拉佩林（Kraepelin）发表的关于早发性痴呆（DP）的第一篇系统的家族研究。虽然这篇文章在 1978 年被大卫·罗森塔尔（David Rosenthal）简短地评论过，但从未被彻底审查或翻译过。在讨论的众多主题中，有四个特别值得注意。首先，Bleuler 认为，要理解精神分裂症在家庭中的遗传模式，就需要明确表型的界限，但他认为表型的界限是未知的。吕丁的选择——克拉佩林的 DP 概念——他断言，太窄了。阐明精神分裂症的遗传学与定义表型的问题密不可分。其次，Bleuler 认为“erbschizose”（字面意思是“遗传性分裂症”）很重要，他想知道他的“4A”或其他“大脑解剖学、化学、[或]神经学特征”是否是精神分裂症遗传传递的基础。第三，Bleuler 对精神分裂症发病的性质深感兴趣，他认为环境逆境可能会引发“潜在疾病显现”。他认为，重要的是要确定这些风险因素，并将其纳入遗传模型。第四，尽管他对当前的知识能否解决精神分裂症的遗传模型不抱乐观态度，但他发现单基因模型不太可信，并在几个点上想知道多基因模型是否更适用。本文提供了完整的翻译。
