Age of onset (AO) and the clinical presentation of SCA27 are variable; other phenotypes than SCA27 associated with mutations in FGF14 include episodic ataxia [5, 6, 12, 14], paroxysmal chorea [8], parkinsonism [7] and dysmorphism and/or microcephaly [3, 9, 10]. Here, FGF14 is linked to spinocerebellar ataxia type 27.