1. Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
- Author
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Palombo F, Vaisfeld A, Tropeano VC, Ormanbekova D, Bacchi I, Fiorini C, Peruzzi A, Morandi L, Liguori R, Carelli V, and Rizzo G
- Subjects
- Humans, Male, Female, Middle Aged, TATA-Box Binding Protein genetics, Adult, Alleles, Mutation genetics, Spinocerebellar Ataxias genetics, Pedigree, Ubiquitin-Protein Ligases genetics
- 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.244Gā>āT;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., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Published
- 2024
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