The examination of Kraepelin's diagnoses of dementia praecox and manic-depressive insanity in pedigrees: Studies of Schuppius in 1912 and Wittermann in 1913

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Pub Date : 2023-06-08 DOI:10.1002/ajmg.b.32950
Kenneth S. Kendler, Astrid Klee
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引用次数: 1

Abstract

In the first two decades of the 20th century, a new approach to psychiatric genetics research emerged in Germany from three roots: (i) the wide-spread acceptance of Kraepelin's diagnostic system, (ii) increasing interest in pedigree research, and (iii) excitement about Mendelian models. We review two relevant papers, reporting analyses of, respectively, 62 and 81 pedigrees: S. Schuppius in 1912 and E. Wittermann in 1913. While most prior asylum based studies only reported a patient's “hereditary burden,” they examined diagnoses of individual relatives at a particular place in a pedigree. Both authors focused on the segregation of dementia praecox (DP) and manic-depressive insanity (MDI). Schuppius reported that the two disorders frequently co-occurred in his pedigrees while Wittermann found them to be largely independent. Schuppius was skeptical of the feasibility of evaluating Mendelian models in humans. Wittermann, by contrast, with advice from Wilhelm Weinberg, applied algebraic models with proband correction to DP in his sibships with results consistent with autosomal recessive transmission. While he had less data, Wittermann suggested that MDI was likely an autosomal dominant disorder. Both authors were interested in other disorders or traits appearing in pedigrees dense with DP (e.g., idiocy) or MDI (e.g., highly excitable individuals).

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Kraepelin对精神失智症和躁狂抑郁性精神错乱的诊断在家系中的检验:1912年对Schuppius和1913年对Wittermann的研究。
在20世纪的前二十年,德国出现了一种新的精神遗传学研究方法,其根源有三:(i)Kraepelin诊断系统被广泛接受,(ii)对谱系研究的兴趣日益增加,以及(iii)对孟德尔模型的兴奋。我们回顾了两篇相关论文,分别报道了62个和81个谱系的分析:1912年的S.Schuppius和1913年的E.Wittermann。虽然之前大多数基于庇护的研究只报告了患者的“遗传负担”,但他们检查了谱系中特定位置的个别亲属的诊断。两位作者都专注于精神失智症(DP)和躁狂抑郁性精神错乱(MDI)的分离。舒皮乌斯报告说,这两种疾病在他的谱系中经常同时发生,而维特曼发现它们在很大程度上是独立的。舒皮乌斯对在人类中评估孟德尔模型的可行性持怀疑态度。相比之下,Wittermann在Wilhelm Weinberg的建议下,对其同胞的DP应用了先证者校正的代数模型,结果与常染色体隐性遗传一致。虽然Wittermann的数据较少,但他认为MDI可能是一种常染色体显性遗传疾病。两位作者都对DP(如白痴)或MDI(如高度兴奋个体)密集谱系中出现的其他疾病或特征感兴趣。
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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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