Abstract In the present study, Pipe Pouches we describe two novel cases of SCA5 with early onset.The first one, carrying a novel heterozygous de novo missense mutation in SPTBN2 gene, showed a striking very severe cerebellar atrophy and reduction of volume of the pons at a Body Washes very young age (16 months).The latter, carrying the first de novo intragenic deletion so far reported in SPTBN2 gene, showed a mild cerebellar atrophy involving the hemispheres and a later onset.
In both cases, for the first time, a hyperintense signal of the dentate nuclei was observed.