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Presymptomatic Diagnosis in Huntington's Disease:The Mexican Experience

机译：在亨廷顿氏舞蹈症诊断发生前症状疾病:墨西哥的经验

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Huntington's disease (HD) is an autosomal dominant progressive, disabling neurodegenerative disorder, for which there is no effective treatment. Predictive testing (PT) for this illness began in 1986 and by 1993 it became more precise after cloning of the gene and the discovery of a CAG repeat expansion as the underlying cause. The objective of this paper is to illustrate the implementation and results of a PT program in a group of at-risk Mexican individuals with 12 years of follow-up. Our PT program conforms to the guidelines proposed by the International Huntington Association and the HD Working group of the World Federation of Neurology. Seventy-five individuals requested the testing, four of them did not fulfill the inclusion criteria, and five abandoned the program voluntarily before receiving the test results. Therefore, 66 results were delivered to 41 noncarriers and 25 mutation carriers. We did not have any catastrophic event, but 4 individuals with normal results and 11 mutation carriers were depressed. Even if this is a small sample, it is the first report of PT in a Latin-American population in which we have been faced with the same problems referred to in larger series.
机译：亨廷顿氏病(HD)是一种常染色体显性遗传进步,禁用神经退行性障碍,没有有效的治疗。疾病始于1986年,到1993年它成为更多基因克隆和后精确发现CAG重复扩张的根本原因。演示的实现和结果在一群危险墨西哥PT项目12年的随访。项目符合提出的指导方针国际亨廷顿协会和高清世界联合会工作小组神经学。测试,其中四个没有完成入选标准,五放弃了程序之前自愿接受测试结果。41非携带者和25个突变携带者。没有任何灾难性事件,但4个人和11个突变与正常结果航空公司是沮丧。示例中,它是第一个报告的PT我们一直在拉丁美洲的人口在面临着同样的问题大系列。

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