Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
Moss DJH, Pardiñas AF, Langbehn D et al.
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Abstract
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Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.
1,989 European and unknown ancestry mutation carriers
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