PMID: 12784679Jun 6, 2003Paper

Genetic diagnosis in neurology--an overview

Rinshō shinkeigaku = Clinical neurology
Ichiro Kanazawa

Abstract

The genetic diagnosis is now most popular in Neurology in these 20 years. The localization of Huntington's disease gene was first determined in 1983 through a procedure of the genetic linkage using DNA markers. The identification of the HD gene was achieved 10 years later. Since a simple PCR technique made it possible not only to fix the accurate diagnose of the disease but also to achieve the presymptomatic diagnosis of HD, we should prepare for the coming requests of genetic testing by at risk persons. We persuade such persons not to receive the test, simply because we can't not only to prevent the disease but also to cure the disease at the moment. However, we can't help testing for persons who fulfill the following conditions; 1) adult persons who are at risk of the molecular genetically verified hereditary disease, 2) persons who know the disease itself and its genetics exactly, 3) persons whose requests for the presymptomatic testing is absolutely spontaneous, not being forced by the third party, such as an insurance company or a parent of fiancé, 4) persons who will be psychologically and financially supported by friends or relatives when the result of the test was positive. In the Symposium, I will present some problems...Continue Reading

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