The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease

DOI to cite this document:: 10.5283/epub.1000

Metzger, Silke ; Bauer, Peter ; Tomiuk, Juergen ; Laccone, Franco ; Didonato, Stefano ; Gellera, Cinzia ; Soliveri, Paola ; Lange, Herwig W. ; Weirich-Schwaiger, Helga ; Wenning, Gregor K. ; Melegh, Bela ; Havasi, Victoria ; Balikó, Lazlo ; Wieczorek, Stefan ; Arning, Larissa ; Zaremba, Jacek

; Sulek, Anna

; Hoffman-Zacharska, Dorota ; Basak, A. Nazli ; Ersoy, Nagehan ; Zidovska, Jana ; Kebrdlova, Vera ; Pandolfo, Massimo ; Ribaï, Pascale ; Kadasi, Ludovit ; Kvasnicova, Marta ; Weber, Bernhard H. F. ; Kreuz, Friedmar ; Dose, Matthias ; Stuhrmann, Manfred ; Riess, Olaf

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Date of publication of this fulltext: 05 Aug 2009 13:24

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Abstract

An expanded polyglutamine stretch in the huntingtin protein has been identified as the pathogenetic cause of Huntington's disease (HD). Although the length of the expanded polyglutamine repeat is inversely correlated with the age-at-onset, additional genetic factors are thought to modify the variance in the disease onset. As linkage analysis suggested a modifier locus on chromosome 4p, we ...