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William Boven's 1915 thesis “Similarity and Mendelism in the heredity of dementia praecox and manic-depressive insanity”
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2023-10-19 , DOI: 10.1002/ajmg.b.32961
Kenneth S. Kendler 1 , Virginia Justis 1
Affiliation  

Boven published, in 1915, his MD thesis at the University of Lausanne in which he examined 60 3- to 4-generation pedigrees ascertained from admitted patients with dementia praecox (DP) and manic-depressive insanity (MDI). He asked three questions: (i) were DP and MDI hereditary? (ii) were they the same or distinct conditions? and (iii) were they Mendelian disorders? Based on the rarity of environmental precipitants severe enough to cause disorder onset and the pattern of disorders in relatives, Boven concluded that both disorders were inherited. He found that MDI largely ran in families through direct transmission across generations while DP was only common in collateral relatives. Both pedigrees contained a substantial number of “psychopathic” (personality disordered) relatives in which DP and MDI pedigrees typically had, respectively, paranoid, and dysthymic/cyclothymic features. Boven concludes that their inheritance is largely distinct but not exclusive, as some pedigrees contained cases of both disorders. With assistance from Wilhelm Weinberg, Boven applied algebraic models with proband correction to rates of DP and MDI in sibships and found the results inconsistent with Mendelian transmission. His study represents among the first examinations, using “modern” methods, of the familial relationship between DP and MDI and the first published in French.

中文翻译:

William Boven 1915 年的论文“早发性痴呆和躁狂抑郁症遗传的相似性和孟德尔主义”

1915 年,博文在洛桑大学发表了他的医学博士论文,其中他检查了 60 个从入院的早发性痴呆 (DP) 和躁狂抑郁症 (MDI) 患者中确定的 3 至 4 代谱系。他问了三个问题:(i) DP 和 MDI 是遗传的吗?(ii) 它们是相同还是不同的条件?(iii) 它们是孟德尔疾病吗?基于严重到足以导致疾病发作的环境诱因的罕见性以及亲属中的疾病模式,博文得出结论,这两种疾病都是遗传性的。他发现MDI主要通过代际直接传播在家庭中传播,而DP仅在旁系亲属中常见。两个谱系都包含大量“精神病”(人格障碍)亲属,其中 DP 和 MDI 谱系通常分别具有偏执和心境恶劣/循环性特征。博文得出的结论是,他们的遗传在很大程度上是不同的,但并不排他性,因为一些家谱包含这两种疾病的病例。在 Wilhelm Weinberg 的帮助下,Boven 将带有先证者校正的代数模型应用于同胞中的 DP 和 MDI 率,发现结果与孟德尔传播不一致。他的研究代表了使用“现代”方法对 DP 和 MDI 之间的家族关系进行的首次检验,并且首次以法语发表。
更新日期:2023-10-19
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