Genetic analysis of candidate genes modifying the age-at-onset in Huntington's Disease: results of a large European association study
S Metzger, P Bauer, J Tomiuk, F Laccone, S DiDonato, C Gellera, H.W Lange, H Weirich-Schwaiger, B Melegh, V Havasi, L Baliko, J.T Epplen, J Zaremba, A Sulek, A.N Basak, E Soydan, J Zidovska, V Kebrdlova, M Pandolfo, P Ribai, L Kadasi, M Kvasnicova, B.H.F Webe… · Aktuelle Neurologie · 2005 · Heft 10
Bibliografische Angaben
Zusammenfassung
Huntington's disease (HD) is a neurodegenerative disorder, which is caused by an expansion of a polymorphic CAG repeat in the HD-gene encoding huntingtin. There is a strong inverse correlation between the number of expanded CAG repeats in HD patients and the median age-at-onset of HD. Statistical modelling attributes 42–73% of the variance to this single genetic factor. The remainder is determined by other genetic and environmental factors. To identify genetic modifiers of the age at disease onset, we identified a total of 15 polymorphisms in the GluR6, TBP, BDNF, HIP14, and HIP1 gene and analysed 6 of them by a…
