Interruptions in C9orf72 expansions have not yet been described, but interrupted repeat expansions have frequently been detected in other neurological disorders, including spinocerebellar ataxia (Chung et al., 1993), fragile X syndrome (Eichler et al., 1994), myotonic dystrophy type I (Musova et al., 2009) and Friedreich ataxia (Stolle et al., 2008). This evidence concerns the gene C9orf72 and fragile X syndrome.