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The examination of Kraepelin's diagnoses of dementia praecox and manic-depressive insanity in pedigrees: Studies of Schuppius in 1912 and Wittermann in 1913
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2023-06-08 , DOI: 10.1002/ajmg.b.32950
Kenneth S Kendler 1 , Astrid Klee 2
Affiliation  

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).

中文翻译:

克雷佩林对早发性痴呆和躁狂抑郁性精神错乱的诊断的检验:1912年舒皮乌斯和1913年维特曼的研究

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,其根源在于:(i) 克雷佩林诊断系统的广泛接受,(ii) 对谱系研究的兴趣日益浓厚,(iii)对孟德尔模型的兴奋。我们回顾了两篇相关论文,分别报告了 62 个和 81 个谱系的分析:1912 年的 S. Schuppius 和 1913 年的 E. Wittermann。虽然大多数先前基于庇护的研究只报告了患者的“遗传负担”,但他们检查了个别亲属的诊断在谱系中的特定位置。两位作者都专注于早发性痴呆(DP)和躁狂抑郁性精神错乱(MDI)的分离。舒皮乌斯报告说,这两种疾病经常在他的谱系中同时发生,而维特曼发现它们在很大程度上是独立的。舒皮乌斯对评估人类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,将带有先证者校正的代数模型应用于他的同胞中的 DP,结果与常染色体隐性遗传一致。虽然 Wittermann 掌握的数据较少,但他认为 MDI 很可能是一种常染色体显性遗传疾病。两位作者都对 DP(例如,白痴)或 MDI(例如,高度兴奋的个体)密集的谱系中出现的其他疾病或特征感兴趣。
更新日期:2023-06-08
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