Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

In the present study, 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 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.

Automated summary

In this study, two novel cases of early onset SCA5 were reported, both involving mutations in SPTBN2 gene. One case showed severe cerebellar atrophy and reduction of pons volume at a very young age, while the other case exhibited mild cerebellar atrophy with a later onset. Additionally, a hyperintense signal of the dentate nuclei was observed in both cases for the first time.