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亨廷顿舞蹈症的范例。

The paradigm of Huntington disease.

作者信息

Jenkins J B, Conneally P M

机构信息

Department of Biology, Swarthmore College, PA 19081.

出版信息

Am J Hum Genet. 1989 Jul;45(1):169-75.

Abstract

I recall it as vividly as though it had occurred but yesterday. It made a most enduring impression upon my boyish mind which was my very first impulse to choosing chorea as my virgin contribution to medical lore. Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women, mother and daughter, both tall and thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment, almost in fear. What could it mean? My father paused to speak with them and we passed on. Then my Gamaliel-like instruction began; my medical education had its inception. From this point on, my interest in the disease has never wholly ceased. [George Huntington, at 59, recalling how at the age of 8 years he first saw Huntington disease while traveling with his physician father on his professional rounds in 1858].

摘要

我对这件事的记忆无比清晰,就好像它是昨天才发生的一样。它在我少年的心中留下了极为深刻的印象,这也是我最初萌生将舞蹈病作为我对医学知识的首次贡献的冲动。我和父亲开车行驶在一条从东汉普顿通往阿马甘西特的林间道路上,突然遇到了两位女性,母亲和女儿,她们都身材高挑且消瘦,几乎像尸体一样,两人都在鞠躬、扭动身体、做鬼脸。我惊讶地盯着她们,几乎感到恐惧。这意味着什么呢?我父亲停下来和她们交谈,然后我们继续前行。接着,我那如同伽玛列般的教导开始了;我的医学教育由此起步。从那时起,我对这种疾病的兴趣就从未完全停止过。[59岁的乔治·亨廷顿回忆起1858年他8岁时,与身为医生的父亲一起进行职业巡诊时首次见到亨廷顿病的情景]

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本文引用的文献

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DNA markers for nervous system diseases.神经系统疾病的DNA标记物。
Science. 1984 Sep 21;225(4668):1320-6. doi: 10.1126/science.6089346.
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Annu Rev Biochem. 1986;55:831-54. doi: 10.1146/annurev.bi.55.070186.004151.
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Huntington's disease: two families with differing clinical features show linkage to the G8 probe.
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