@article{c436e49385304f8b8960031869aa8d72,
title = "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 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.",
author = "Romina Romaniello and Andrea Citterio and Elena Panzeri and Filippo Arrigoni and {De Rinaldis}, Marta and Antonio Trabacca and Bassi, {Maria Teresa}",
note = "Funding Information: The work was supported by funds from the Italian Ministry of Health, grant # RC2020 and RC021 (to MTB), RF‐NET‐2013‐02356160 (to RR), 5X MILLE (to RR), and funds from the Fondazione Regionale Lombarda per la Ricerca Biomedica (FRRB) grant # Care4Neurorare (to MTB). Funding Information: The authors wish to thank patients and their families for participating in this work. The work was supported by funds from the Italian Ministry of Health, grant # RC2020 and RC021 (to MTB), RF‐NET‐2013‐02356160 (to RR), 5X MILLE (to RR), and funds from the Fondazione Regionale Lombarda per la Ricerca Biomedica (FRRB) grant # Care4Neurorare (to MTB). Publisher Copyright: {\textcopyright} 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
doi = "10.1002/acn3.51345",
language = "English",
volume = "8",
pages = "956--963",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "Wiley-Blackwell",
number = "4",
}