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

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

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

The identification of the complex SCA phenotype may impact on diagnosis and genetic counseling in the families with both hereditary and sporadic ataxia. The independent segregation of TBP and STUB1 alleles needs to be considered for recurrence risk and predictive genetic tests. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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关键词

SCA17,STUB1,TBP,digenic inheritance,intermediate trinucleotide expansions

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