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.
Palombo F., Vaisfeld A., Tropeano V.C., Ormanbekova D., Bacchi I., Fiorini C., et al. (2024). Two more families supporting the existence of monogenic spinocerebellar ataxia 48. NEUROGENETICS, 25(3), 277-280 [10.1007/s10048-024-00758-8].
Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Palombo F.;Vaisfeld A.;Ormanbekova D.;Bacchi I.;Fiorini C.;Peruzzi A.;Morandi L.;Liguori R.;Carelli V.;Rizzo G.
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
