Rocca W A, Amaducci L
Italian Multicenter Study on Dementia, S.M.I.D. Center, Florence, Italy.
Psychiatr Dev. 1988 Spring;6(1):23-36.
This report reviews current data on the familial aggregation of Alzheimer's disease (AD). Single pedigree reports indicate that in few families AD is inherited as an autosomal dominant single gene disorder. Family studies show that first-degree relatives of AD patients have a higher lifetime incidence of AD than the general population or groups of nondemented subjects. Case-control studies indicate that the risk of developing AD is significantly higher for subjects with family members affected by dementia than for those without. The concordance rate in monozygotic twin pairs was found to be much lower than expected from an autosomal dominant disease. These data are inconclusive; however, they suggest that in future etiologic studies 3 types of AD should be considered separately: autosomal dominant, familial, and sporadic. Subclassification of AD by type of occurrence generates groups of patients which are probably more homogeneous regarding etiology.
本报告回顾了目前关于阿尔茨海默病(AD)家族聚集性的相关数据。单一家系报告表明,在少数家族中,AD作为常染色体显性单基因疾病遗传。家族研究显示,AD患者的一级亲属一生中患AD的几率高于普通人群或非痴呆人群。病例对照研究表明,有痴呆症家族成员的受试者患AD的风险显著高于没有家族成员患痴呆症的受试者。发现同卵双胞胎的一致率远低于常染色体显性疾病预期的一致率。这些数据尚无定论;然而,它们表明在未来的病因学研究中,应将三种类型的AD分别考虑:常染色体显性、家族性和散发性。根据发病类型对AD进行亚分类,可能会产生在病因方面更具同质性的患者群体。