Davies P
Neurobiol Aging. 1986 Nov-Dec;7(6):459-66. doi: 10.1016/0197-4580(86)90071-0.
This paper examines the evidence for a genetic etiology of Alzheimer's Disease. Three groups of cases are identified; the first being those with a consistently early age of onset, in which autosomal dominant inheritance can be established. These families may require genetic counseling, and represent an extraordinary resource for research. There are early onset cases without a strong genetic component, and later onset cases generally show only weak evidence of hereditary disease. Some of the apparent distinctions between these groups may result from methodologic problems, especially if the age of onset of symptoms is highly variable in the majority of families. Studies of associations between Alzheimer's Disease and Down's Syndrome suggest a role for genes on chromosome 21 in the genesis of the pathologic features, and testable hypotheses can be identified. Attempts to link the development of Alzheimer's Disease to the presence of specific inherited markers have generally been unsuccessful to date, but there are some promising findings. Recent progress in understanding the molecular basis of other inherited diseases is reviewed in relation to attempts to understand the possible molecular basis of Alzheimer's Disease. A limiting factor in future studies will probably be the availability of cells and tissues from pedigrees demonstrating autosomal dominant inheritance of this disorder.
本文研究了阿尔茨海默病遗传病因的证据。确定了三组病例；第一组是那些发病年龄始终较早的病例，其中可以确定常染色体显性遗传。这些家族可能需要遗传咨询，并且是研究的特殊资源。有一些发病早但没有很强遗传成分的病例，而发病晚的病例通常仅显示出遗传性疾病的微弱证据。这些组之间的一些明显差异可能是由方法学问题导致的，特别是如果在大多数家族中症状的发病年龄变化很大。对阿尔茨海默病与唐氏综合征之间关联的研究表明，21号染色体上的基因在病理特征的发生中起作用，并且可以确定可检验的假设。迄今为止，将阿尔茨海默病的发展与特定遗传标记的存在联系起来的尝试总体上并不成功，但有一些有希望的发现。结合试图理解阿尔茨海默病可能的分子基础，综述了在理解其他遗传性疾病分子基础方面的最新进展。未来研究的一个限制因素可能是能否获得来自显示该疾病常染色体显性遗传的家系的细胞和组织。
