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Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
- Source :
-
Neurogenetics [Neurogenetics] 2024 Jul; Vol. 25 (3), pp. 277-280. Date of Electronic Publication: 2024 Apr 16. - Publication Year :
- 2024
-
Abstract
- The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges.<br /> (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Details
- Language :
- English
- ISSN :
- 1364-6753
- Volume :
- 25
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Neurogenetics
- Publication Type :
- Academic Journal
- Accession number :
- 38625442
- Full Text :
- https://doi.org/10.1007/s10048-024-00758-8