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, carryin...

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Autores principales: Romaniello, Romina, Citterio, Andrea, Panzeri, Elena, Arrigoni, Filippo, De Rinaldis, Marta, Trabacca, Antonio, Bassi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045899/
https://www.ncbi.nlm.nih.gov/pubmed/33756041
http://dx.doi.org/10.1002/acn3.51345
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author Romaniello, Romina
Citterio, Andrea
Panzeri, Elena
Arrigoni, Filippo
De Rinaldis, Marta
Trabacca, Antonio
Bassi, Maria Teresa
author_facet Romaniello, Romina
Citterio, Andrea
Panzeri, Elena
Arrigoni, Filippo
De Rinaldis, Marta
Trabacca, Antonio
Bassi, Maria Teresa
author_sort Romaniello, Romina
collection PubMed
description 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.
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spelling pubmed-80458992021-04-16 Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5 Romaniello, Romina Citterio, Andrea Panzeri, Elena Arrigoni, Filippo De Rinaldis, Marta Trabacca, Antonio Bassi, Maria Teresa Ann Clin Transl Neurol Brief Communications 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. John Wiley and Sons Inc. 2021-03-23 /pmc/articles/PMC8045899/ /pubmed/33756041 http://dx.doi.org/10.1002/acn3.51345 Text en © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Romaniello, Romina
Citterio, Andrea
Panzeri, Elena
Arrigoni, Filippo
De Rinaldis, Marta
Trabacca, Antonio
Bassi, Maria Teresa
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title_full Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title_fullStr Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title_full_unstemmed Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title_short Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
title_sort novel sptbn2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045899/
https://www.ncbi.nlm.nih.gov/pubmed/33756041
http://dx.doi.org/10.1002/acn3.51345
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