CORE--GENETIC COUNSELING AND TESTING

这个核心的目的是开发一个模型程序的遗传 为阿尔茨海默病患者及其家人提供咨询和测试。 最近 遗传学的进步扩大了我们对遗传学的了解， 阿尔茨海默病（AD）和患者的基因检测选择， 家人 先前关于19号染色体参与的证据 在晚发性AD中， AD与载脂蛋白E（Apo-E）基因座之间的关联。 研究 还表明，1-抗胰凝乳蛋白酶（ACT）可以赋予显着的 AD的风险以及与ApoE的积极结合。 三大基因 占早发常染色体显性AD的90%， 被发现 AD基因检测可能对数百万人有益 受AD影响或有AD风险。 对于受影响的个人，检测 联合检测ApoE/ACT有助于明确AD的诊断 以及选择治疗方案。 对于有早发风险的人 AD，预测性基因检测现在是可能的， 精度 然而，不知道的是，这群人的反应是什么。 消费者对这些新的选择。 将向所有患者及其家属提供遗传咨询。 诊断为很可能或可能AD的患者将接受以下检测： ApoE/ACT作为其临床核心基础检查的一部分。 将启动AD风险个体的症状前检测 遵循从针对亨廷顿病开发的方案改编的方案。 这项协议将包括遗传咨询，心理筛查， 考前咨询和随访。

The purpose of this core is to develop a model program for the genetic counseling and testing of Alzheimer patients and their families. Recent genetic advances have expanded our knowledge about the genetics of Alzheimer disease (AD) and the genetic testing options for patients and their families. Previous evidence of the involvement of chromosome 19 in late onset AD has been confirmed by the finding of a significant association between AD and the apolipoprotein E (Apo-E) locus. Research has also shown that 1-antichymotrypsin (ACT) may confer a significant risk for AD as well as active conjunction with ApoE. Three major genes accounting for up to 90% of early onset autosomal dominant AD have also been discovered. Genetic testing for AD may prove beneficial to millions of individuals affected by, or at risk for, AD. For affected individuals, testing for the combination of ApoE/ACT may help in clarifying the diagnosis of AD and in choosing treatment options. For persons at risk for early onset AD, predictive genetic testing is now possible with a high degrees of accuracy. What is unknown, however, is the response of this group of consumers to these new options. Genetic counseling will be offered to all patients and their families. Patients diagnosed with probable or possible AD will be tested for ApoE/ACT as part of their basic workup in the clinical core. Presymptomatic testing of individuals at risk for AD will be initiated following a protocol adapted from those developed for Huntington disease. This protocol will include genetic counseling, psychological screening, pretest counseling and followup.