Article
Association of age at onset in Huntington disease with functional promoter variations in NPY and NPY2R.
Journal of molecular medicine (Berlin, Germany) - 1 Feb 2014
Kloster Eugen, Saft Carsten, Akkad Denis A, Epplen Jörg T, Arning Larissa
Abstract excerpt
Huntington disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the HTT gene. Although the variation in age at onset (AO) is partly explained by the lengths of the expanded repeats, the unexplained variation is highly heritable, emphasizing the role of the so-called genetic background on disease expression. Neuropeptide Y (NPY) has been implicated in the modulation of neuroprotection,...
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