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Article

Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2023

Nanetti Lorenzo, Magri Stefania, Fichera Mario, Castaldo Anna, Nigri Anna, Pinardi Chiara, Mongelli Alessia, Sarro Lidia, Pareyson Davide, Grisoli Marina, Gellera Cinzia, Di Bella Daniela, Mariotti Caterina, Taroni Franco

Abstract excerpt

BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by the concomitant presence of an intermediate-length expansion in TATA-box binding protein gene (TBP40-46 ) and a heterozygous pathogenic variant in the Stip1-homologous and U-Box...

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PMID: 36799493
DOI: 10.1002/mds.29352

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Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.PMID 36799493Read ↗

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