The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we...

Full description

Bibliographic Details
Main Authors: Silke Metzger, Carolin Walter, Olaf Riess, Raymund A C Roos, Jørgen E Nielsen, David Craufurd, REGISTRY Investigators of the European Huntington’s Disease Network, Huu Phuc Nguyen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3718802?pdf=render