SPG11 and spastic ataxia: In addition, two variants were predicted to affect splicing by bioinformatics analysis (Table S3, supporting information)—c.3039-5T > G in SPG11 and c.1166-2A > G in KIF1C—both in families with spastic ataxia; their detrimental effect on splicing was confirmed by minigene splicing-assays, concluding that both are expected to result in frameshifts (Figure 1; Figure S1, supporting information).