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一项关于阿尔茨海默病家族因素的研究。

A study of familial factors in Alzheimer's disease.

作者信息

Whalley L J, Carothers A D, Collyer S, De Mey R, Frackiewicz A

出版信息

Br J Psychiatry. 1982 Mar;140:249-56. doi: 10.1192/bjp.140.3.249.

Abstract

Data on the families of 74 probands with autopsy-proven Alzheimer's disease did not support the hypothesis, advanced by Heston and co-workers, of a familial association between Alzheimer's disease, Down's syndrome and immunoproliferative disorders. However, there are difficulties of interpreting negative conclusions in this type of study, particularly those resulting from small sample size and the impossibility of tracing all relatives; only the data for immunoproliferative disorders are incompatible with the hypothesis, those for Down's syndrome being too few to be informative. The incidence of presenile dementia among the first-degree relatives of probands was raised, as in many previous studies, and was consistent with a simple polygenic model. The mean parental age at birth of the probands was significantly raised by about 2 years (P divided by 0.01), but so also was that of their unaffected sibs, suggesting that the mechanism differs from that occurring in trisomy 21 and certain other aneuploidies.

摘要

对74名经尸检证实患有阿尔茨海默病的先证者的家族数据进行研究,结果并不支持赫斯顿及其同事提出的阿尔茨海默病、唐氏综合征和免疫增殖性疾病之间存在家族关联的假说。然而,在这类研究中解读阴性结论存在困难,尤其是那些因样本量小以及无法追踪所有亲属而导致的困难;只有免疫增殖性疾病的数据与该假说不相符,唐氏综合征的数据太少,无法提供有用信息。如同许多先前的研究一样,先证者一级亲属中早老性痴呆的发病率有所升高,这与一个简单的多基因模型相符。先证者出生时其父母的平均年龄显著提高了约2岁(P值除以0.01),但其未患病同胞的平均年龄也同样提高了,这表明其机制与21三体及其他某些非整倍体情况不同。

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