Open AccessNovel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
Author(s) -
Romaniello Romina,
Citterio Andrea,
Panzeri Elena,
Arrigoni Filippo,
De Rinaldis Marta,
Trabacca Antonio,
Bassi Maria Teresa
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51345
Subject(s) - spinocerebellar ataxia , missense mutation , atrophy , pons , mutation , medicine , cerebellar ataxia , cerebellum , gene , genetics , ataxia , pathology , biology , psychiatry
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.