William Boven's 1915 thesis “Similarity and Mendelism in the heredity of dementia praecox and manic-depressive insanity”

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2023-10-19 DOI:10.1002/ajmg.b.32961
Kenneth S. Kendler, Virginia Justis
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Abstract

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.

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William Boven 1915年的论文“早发性痴呆和躁狂抑郁性精神错乱遗传中的相似性和孟德尔主义”。
Boven于1915年在洛桑大学发表了他的医学博士论文,在该论文中,他研究了60个3至4代谱系,这些谱系是从入院的早发性痴呆(DP)和躁狂-抑郁性精神错乱(MDI)患者中确定的。他问了三个问题:(i)DP和MDI是遗传的吗?(ii)它们是相同的还是不同的条件?以及(iii)它们是孟德尔疾病吗?根据罕见的严重到足以导致疾病发作的环境沉淀剂和亲属的疾病模式,Boven得出结论,这两种疾病都是遗传的。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。这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恶劣心境/循环心境特征。Boven得出结论,他们的遗传在很大程度上是不同的,但不是排他性的,因为一些谱系包含了这两种疾病的病例。在Wilhelm Weinberg的协助下,Boven将带有先证者校正的代数模型应用于同胞中DP和MDI的比率,发现结果与孟德尔传递不一致。他的研究是第一次使用“现代”方法对DP和MDI之间的家族关系进行检查,也是第一次用法语发表研究。
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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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