Novel <i>SPTBN2</i> gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
Romina Romaniello, Andrea Citterio, Elena Panzeri, Filippo Arrigoni, Marta De Rinaldis, Antonio Trabacca, Maria Teresa Bassi
Abstract
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.
Topics & Concepts
Spinocerebellar ataxiaMissense mutationAtrophyPonsMutationMedicineCerebellar ataxiaCerebellumGeneGeneticsAtaxiaPathologyBiologyInternal medicinePsychiatryGenetic Neurodegenerative DiseasesMicrotubule and mitosis dynamicsNuclear Structure and Function