Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
Abstract In the present study, we describe two novel cases of afck benchmade 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 intragen