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16-04-2024 | Spinocerebellar Ataxia | Short Communication

Two more families supporting the existence of monogenic spinocerebellar ataxia 48

Authors: Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizzo

Published in: Neurogenetics

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.

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Title: Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Authors: Flavia Palombo
Alessandro Vaisfeld
Valentina Concetta Tropeano
Danara Ormanbekova
Isabelle Bacchi
Claudio Fiorini
Adelaide Peruzzi
Luca Morandi
Rocco Liguori
Valerio Carelli
Giovanni Rizzo
Publication date: 16-04-2024
Publisher: Springer Berlin Heidelberg
Keywords: Spinocerebellar Ataxia
Dysarthria
Published in: Neurogenetics
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-024-00758-8

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