Kenneth S. Kendler MD, Nikolai Czajkowski PhD, Ted Reichborn-Kjennerud MD, PhD
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引用次数: 1
Abstract
In 1859, Ludvig Dahl, a Norwegian alienist, wrote a rarely referenced book entitled “Contribution to The Knowledge of Insanity.” In it, he describes a highly innovative psychiatric genetics research project with severable notable features. First, while the vast majority of 19th century psychiatric genetic studies were based on asylum hospital records, Dahl did field work to find cases of mental illness in certain defined areas within Norway, using census data, key-informants, record reviews, and personal interviews especially of suspected affected individuals. Second, for the first time in the history of psychiatric genetics, and perhaps more broadly in medical genetics, Dahl studied and graphed extensive pedigrees covering up to seven generations demonstrating a high density of psychiatric illness. Third, he proposed and conducted the first controlled investigation of familial aggregation of insanity. A 126 member 5-generation pedigree that he studied contained 8 individuals with confirmed insanity compared to 16 cases in the remaining 2,974 individuals in the Parish, a relative risk of nearly 12. Dahl also noted the co-segregation within pedigrees of mental handicap, deaf-mutism, and insanity. He evaluated familial-environmental sources of familial aggregation and noted, among nonpsychotic family members in his pedigrees, personalities that might reflect a “disposition” to insanity.
1859年,挪威外星人学者路德维格·达尔(Ludvig Dahl)写了一本很少被提及的书,名为《对精神错乱知识的贡献》(Contribution to The Knowledge of Insanity)。在这篇文章中,他描述了一个高度创新的精神病学遗传学研究项目,该项目具有几个显著的特点。首先,19世纪绝大多数精神病学基因研究都是基于精神病院的记录,达尔利用人口普查数据、关键线人、记录审查和个人访谈,特别是对疑似受影响的个人进行了实地调查,在挪威的某些特定地区发现了精神疾病病例。其次,在精神病学遗传学的历史上,也许在更广泛的医学遗传学上,达尔第一次研究并绘制了涵盖多达七代人的广泛谱系图,证明了精神疾病的高密度。第三,他提出并进行了第一次精神错乱家族聚集性的对照调查。他研究了一个由126个成员组成的5代谱系,其中有8人被确诊为精神错乱,而教区剩余的2974个人中有16例,相对风险接近12。达尔还注意到精神障碍、聋哑人和精神错乱谱系中的共同隔离。他评估了家庭聚集的家庭环境来源,并指出,在他的谱系中,在非精神病家庭成员中,性格可能反映出精神错乱的“倾向”。
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.