Genetic testing composed of karyotyping, chromosomal microarray, and screening for DYT-TOR1A, DYT-THAP1, DYT-GCH1, spinocerebellar ataxias 1, 2, 3, 6, 7, 8, 12, 17, Friedreich's ataxia, and fragile X syndrome was negative. Here, GCH1 is linked to spinocerebellar ataxia type 1.