C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies - Hensman Moss, Davina J; Poulter, Mark; Beck, Jon; Hehir, Jason; Polke, James M; Campbell, Tracy; Adamson, Garry; Mudanohwo, Ese; McColgan, Peter; Haworth, Andrea; Wild, Edward J; Sweeney, Mary G; et al. (Neurology, 2014)
Keywords: Adolescent; Adult; Age of Onset; C9orf72 Protein; Child; Cognition Disorders - etiology; Cognition Disorders - genetics; Cohort Studies; DNA Mutational Analysis; DNA Repeat Expansion - genetics; Female; Humans; Huntington Disease - complications; Huntington Disease - genetics; Magnetic Resonance Imaging; Male; Mental Status Schedule; Middle Aged; Phenotype; Proteins - genetics; Severity of Illness Index; Young Adult