Karlinsky H, Madrick E, Ridgley J, Berg J M, Becker R, Bergeron C, Hodgkinson S, Percy M E, McLachlan D
Geriatric Psychiatry Services, Queen Elizabeth Hospital, Toronto.
Br J Psychiatry. 1991 Oct;159:524-30. doi: 10.1192/bjp.159.4.524.
A family with a multigenerational history of proven or suspected early-onset Alzheimer's disease (AD) consistent with autosomal-dominant inheritance is described. To date, the pedigree comprises five generations in which there are 13 known affected individuals. The mean age of onset of cognitive deficits in those for whom data are available (n = 11) is 47.6 (s.d. 3.0) years and the mean age of death (n = 10) is 58.8 (s.d. 4.0) years. The variability in the extent and quality of available data illustrates the diagnostic difficulties encountered in ascertaining such an extended pedigree, and the need for caution in interpreting the evidence.
本文描述了一个有早发性阿尔茨海默病（AD）确诊或疑似病例的多代家族史，其遗传方式符合常染色体显性遗传。截至目前，该家系包含五代人，其中有13名已知的患病个体。在有数据的个体中（n = 11），认知功能缺损的平均发病年龄为47.6（标准差3.0）岁，平均死亡年龄（n = 10）为58.8（标准差4.0）岁。可用数据在范围和质量上的变异性说明了在确定如此庞大的家系时所遇到的诊断困难，以及在解释证据时需要谨慎。
