Breitner J C, Silverman J M, Mohs R C, Davis K L
Bronx VA Medical Center, New York, NY.
Neurology. 1988 Feb;38(2):207-12. doi: 10.1212/wnl.38.2.207.
Although the morbid risk of Alzheimer's disease (AD) is increased among relatives of AD index cases, it is not yet clear whether the extent of familial aggregation is similar for probands of all ages, or for male and female relatives. The present study investigated the incidence of AD-like illness among 379 first-degree relatives of 79 probands in a continuing longitudinal study of AD. Cumulative incidence among relatives increased strikingly with age to 49% by age 87, and the risks observed did not differ appreciably among relatives of presenile-onset versus senile-onset probands. Risks were also similar among parents and sibs. Female relatives appeared to develop the disease earlier than males, but the age-specific risk curves for the two sexes did not differ significantly. These results should not be viewed as direct evidence for dominant genetic transmission of late-onset AD, but they suggest a rationale for formal genetic studies in late-onset (often apparently "sporadic") disease as well as earlier-onset ("familial") cases.
尽管阿尔茨海默病(AD)指数病例的亲属中患该病的风险增加,但目前尚不清楚所有年龄段的先证者,或男性和女性亲属的家族聚集程度是否相似。在一项持续的AD纵向研究中,本研究调查了79名先证者的379名一级亲属中类AD疾病的发病率。亲属中的累积发病率随年龄显著增加,到87岁时达到49%,早发型与晚发型先证者的亲属中观察到的风险没有明显差异。父母和兄弟姐妹的风险也相似。女性亲属似乎比男性更早发病,但两性的年龄特异性风险曲线没有显著差异。这些结果不应被视为晚发型AD显性遗传传递的直接证据,但它们为晚发型(通常明显为“散发性”)疾病以及早发型(“家族性”)病例的正式遗传学研究提供了理论依据。