SCA38 is rare in Mainland China

Spinocerebellar ataxias (SCAs) are a group of dominantly inherited neurodegenerative disorders distributed worldwide. Nearly 35 SCAs have been localized and 28 genes have been identified. Recently, mutations in the elongation of a very long chain fatty acids-5 gene (ELOVL5) were reported to cause a SCA38 subtype. To describe the epidemiology of SCA38 in Mainland China, we analyzed the coding sequence of ELOVL5 in 346 patients diagnosed as SCAs. Finally, we did not observe any disease-related gene mutations in ELOVL5. This suggests that the SCA38 subtype is very rare in Mainland China.