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Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.
- Source :
- Annals of Clinical & Translational Neurology; Apr2021, Vol. 8 Issue 4, p956-963, 8p
- Publication Year :
- 2021
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 23289503
- Volume :
- 8
- Issue :
- 4
- Database :
- Complementary Index
- Journal :
- Annals of Clinical & Translational Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 149811594
- Full Text :
- https://doi.org/10.1002/acn3.51345