Multiple CNVs affecting SPG7 (n = 4), CACNA1A (n = 3), SGCE (n = 3), NKX2-1 (n = 2) and SPAST (n = 2) were detected in individuals with episodic ataxia, dystonia, or spastic paraplegia, respectively (Supplementary Table 2). The gene discussed is SPAST; the disease is Dystonia.