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

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

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Abstract In the present study, we describe two novel cases of SCA5 with early onset.The first one, carrying a novel heterozygous here 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 cent dyyni first time, a hyperintense signal of the dentate nuclei was observed.