Huntington's disease in Greece: the experience of 14 years
Article first published online: 20 DEC 2010
© 2010 John Wiley & Sons A/S
Volume 80, Issue 6, pages 586–590, December 2011
How to Cite
Panas, M., Karadima, G., Vassos, E., Kalfakis, N., Kladi, A., Christodoulou, K. and Vassilopoulos, D. (2011), Huntington's disease in Greece: the experience of 14 years. Clinical Genetics, 80: 586–590. doi: 10.1111/j.1399-0004.2010.01603.x
- Issue published online: 24 OCT 2011
- Article first published online: 20 DEC 2010
- Accepted manuscript online: 25 NOV 2010 05:30AM EST
- Received 2 September 2010, revised and accepted 23 November 2010
- Huntington's disease;
Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years.
A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false-positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.