<scp><i>STUB1</i></scp> Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8-Reference-Cited by-同舟云学术

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8

Published:2024-07-04 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Baviera‐Muñoz Raquel¹²³^ORCID,Carretero‐Vilarroig Lidón²,Pedro‐Ibor Ana²,Jaijo Teresa²³⁴⁵^ORCID,Del Valle‐Carranza Andrea²,Martínez‐Torres Irene¹³,Millán Jose M.²³⁵,Bataller Luis¹⁶⁷^ORCID,Aller Elena²³⁴⁵^ORCID

Affiliation:

1. Neurology Department Hospital Universitari I Politècnic La Fe Valencia Spain

2. Cellular, Molecular and Genomics Biomedicine Group Instituto de Investigación Sanitaria La Fe Valencia Spain

3. Rare Diseases Joint Unit, CIPF‐IIS La Fe Valencia Spain

4. Department of Genetics Hospital Universitari I Politècnic La Fe Valencia Spain

5. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain

6. Neuromuscular and Ataxias Research Group Instituto de Investigación Sanitaria La Fe Valencia Spain

7. Department of Medicine University of Valencia Valencia Spain

Abstract

AbstractBackgroundSpinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been identified in association with other types of hereditary ataxias, pointing to a possible genetic synergism.ObjectivesWe aimed to further investigate the molecular background of patients with SCA8 diagnosis.MethodsPatients were selected from our cohort of 346 families. A total of 14 probands with SCA8 underwent additional investigation through exome sequencing.ResultsPathogenic heterozygous STUB1 variants were found in 21.4% of SCA8 patients (3 of 14) compared to only 0.5% in the non‐SCA8 group (1 of 222), indicating a statistically significant association (P < 0.05).ConclusionsThe findings reported in this study might suggest a genetic synergism between STUB1 and ATXN8OS/ATXN8 expanded alleles. Further studies are needed to validate this observation and better define the clinical impact of this genetic interaction. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Funder

Instituto de Salud Carlos III

Publisher

Wiley

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