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© 1999 American Academy of Neurology Articles DNA analysis of Huntington’s diseaseFive years of experience in Germany, Austria, and SwitzerlandFrom the Institute of Human Genetics (Drs. Laccone, Engel, and von Beust), University of Göttingen, Germany; the Department for Paediatric Genetics (Dr. Holinski–Feder), Children’s Hospital, Munich, Germany; the Institute of Medical Genetics (Dr. Weigell–Weber), University of Zürich, Switzerland; the Institute of Medical Genetics (Dr. Marczinek), Charité University Hospital, Berlin, Germany; the Institute of Human Genetics (Dr. Nolte), University of Giessen, Germany; the Institute of Human Genetics (Dr. Morris–Rosendahl), University of Freiburg, Germany; the Institute of Human Genetics (Dr. Zühlke), University of Lübeck, Germany; the Department of General Psychiatry, University Hospital for Psychiatry (Dr. Fuchs), Vienna, Austria; the Institute of Medical Biology and Human Genetics (Dr. Weirich–Schwaiger), Innsbruck, Austria; the Laboratory of Professor Seelig (Dr. Schlüter), Karlsruhe, Germany; the Institute of Human Genetics (Dr. Weber), Biocenter, Wuerzburg, Germany; and Molecular Human Genetics (Dr. Riess and A.M.M. Vieira–Saecker), Ruhr-University, Bochum, Germany. Address correspondence and reprint requests to Dr. F. Laccone, Institute of Human Genetics, Gosslerstrasse 12d, 37073 Goettingen, Germany. OBJECTIVE: To review the direct DNA testing for Huntington’s disease (HD) in Germany, Switzerland, and Austria from 1993 to 1997, and to analyze the population with regard to age structure, gender, and family history. METHODS: Twelve laboratories (nine in Germany, two in Austria, and one in Switzerland) recorded data pertaining to repeat number, gender, age at molecular diagnosis, and family history of probands. The molecular test was categorized as either diagnostic (for symptomatic individuals), presymptomatic (for individuals at risk), and prenatal (for pregnancies at risk). RESULTS: A total of 3,090 HD patients, 992 individuals at risk, and 24 fetuses were investigated using DNA analysis. The clinical diagnosis was confirmed in 65.6% of patients. A total of 38.5% of individuals at risk inherited an expanded CAG repeat. The female-to-male ratio showed a distinct predominance of women both in the diagnostic and presymptomatic groups. Of the fetuses tested, six were carriers of an expanded CAG repeat. Two pregnancies were interrupted; one pregnancy was not. No information about the parents’ decision was obtained for the remaining three pregnancies. CONCLUSIONS: Approximately 20% of the estimated 10,000 HD patients living in Germany, Switzerland, and Austria have been identified by DNA analysis (total population, approximately 100 million; incidence of HD, 1:10,000). Assuming a ratio of HD patients to individuals at risk of 1:3, approximately 30,000 individuals are, in principle, eligible for a presymptomatic test. Less than 3 to 4% of individuals at risk have requested a presymptomatic test. This shows that the assumed enormous request of predictive testing has not occurred. More surprisingly, prenatal diagnoses were found to be rare. Key words: DNA analysis—Huntington’s disease—Germany—Switzerland—Austria. This article has been cited by other articles:
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