Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28

Our study expands the phenotypic characterization of SCA28 by means of brain pathology and diffusion tensor imaging/voxel-based morphometry MRIs. The identification of a partial AFG3L2 deletion and the subsequent functional studies reveal loss of function as the most likely disease mechanism. Specific testing for deletions in AFG3L2 is warranted because these escape standard sequencing.