Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease
✍ Scribed by Silke Metzger; Peter Bauer; Jürgen Tomiuk; Franco Laccone; Stefano DiDonato; Cinzia Gellera; Caterina Mariotti; Herwig W. Lange; Helga Weirich-Schwaiger; Gregor K. Wenning; Klaus Seppi; Bela Melegh; Viktoria Havasi; Laszlo Balikó; Stefan Wieczorek; Jacek Zaremba; Dorota Hoffman-Zacharska; Anna Sulek; A. Nazli Basak; Esra Soydan; Jana Zidovska; Vera Kebrdlova; Massimo Pandolfo; Pascale Ribaï; Ludovit Kadasi; Marta Kvasnicova; Bernhard H. F. Weber; Friedmar Kreuz; Matthias Dose; Manfred Stuhrmann; Olaf Riess
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 317 KB
- Volume
- 120
- Category
- Article
- ISSN
- 0340-6717
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## Abstract The age of onset of Huntington's disease (HD) is inversely correlated with the CAG length in the HD gene. The CAG repeat length accounts for 70% of the variability in HD age of onset. However, 90% of individuals worldwide with expanded alleles possess between 40 and 50 CAG repeat length
We analyzed the data on age at onset and CAG size of 319 patients clinically diagnosed with Huntington disease (HD) and 86 presymptomatic subjects recorded by four Italian Centers over the last 14 years. To overcome the problem of different CAG numbers found in each subject, also in the same family,