Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

► Mutations in FGF14 gene were screened in 67 unrelated Chinese Han probands with ADCA by DHPLC and DNA direct sequencing. ► We found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features. ► A probable novel insertion/deletion (I/D) polymorphism (c.-10delC) was found. ► It suggests that SCA27 is a rare subtype in China.