Initially cloned on the basis of sequence similarity with other FGF members, FGF14 was first associated to a human disease with the F145S mutation causing spinocerebellar ataxia 27 (SCA27), a naturally occurring complex neurodegenerative disorder characterized by onset of ataxia in early adulthood and deficits in cognition, memory and behavior (Smallwood et al., 1996; van Swieten et al., 2003; Brusse et al., 2006). Here, FGF14 is linked to spinocerebellar ataxia type 27.