Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10
Angel Omar Romero-Molina, Gabriel Ramirez-Garcia, Amanda Chirino-Perez, Gustavo Padron-Rivera, Carlos Roberto Hernandez-Castillo, Maria Guadalupe Garcia-Gomar, Diana Laura Torres-Vences, Juan Fernandez-Ruiz
Abstract
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia, characterized by epilepsy, ataxic symptoms, and cognitive impairments linked to Cerebellar Cognitive Affective Syndrome (CCAS).
Introduction
Spinocerebellar ataxia type 10 (SCA10) is one of the most prevalent forms of spinocerebellar ataxia (SCA) in the Mexican population [1,2]. This condition is caused by a mutation in the ATXN10 gene, characterized by an expansion of ATTCT pentanucleotide repeats in intron 9 [3].
Materials and methods
This study included 15 patients (9 women, mean age 51.06 years ± 11.39 SD). All patients had a proven pentanucleotide (ATTCT) repeat within the expanded range. Five patients reported the presence of seizures (confirmed by relatives).
Results
Before analyzing the CCAS-S results comparison between patients and controls, we tested the sensitivity and specificity of the scale in patients with SCA10 to determine a cut-off point for their cognitive performance.
Discussion
Here we wanted to test if patients with the SCA10 mutation exhibited CCAS using the CCAS-S, and to compare the scale’s clinical utility with that of MoCA. The CCAS-S demonstrated satisfactory sensitivity and specificity, with an AUC of 0.83.
Conclusion
In conclusion, patients with the SCA10 mutation exhibited CCAS. In addition to the significant cognitive impairment, which was also detected by the MoCA, the CCAS-S score was significantly affected by indicators of depressive mood.
Citation: Romero-Molina AO, Ramirez-Garcia G, Chirino-Perez A, Padron-Rivera G, Hernandez-Castillo CR, Garcia-Gomar MG, et al. (2025) Cerebellar cognitive affective syndrome in patients with spinocerebellar ataxia type 10. PLoS ONE 20(3): e0319505. https://doi.org/10.1371/journal.pone.0319505
Editor: Maryam Bemanalizadeh, Isfahan University of Medical Sciences, IRAN, ISLAMIC REPUBLIC OF
Received: September 17, 2024; Accepted: February 3, 2025; Published: March 3, 2025
Copyright: © 2025 Romero-Molina et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Data Availability: Data cannot be shared publicly because they contain potentially identifying information and are subject to ethical considerations regarding patients' privacy. Data are available from the Laboratorio de Neuropsicología at the Facultad de Medicina, Universidad Nacional Autónoma de México, for researchers who meet the criteria for access to confidential data. Access requests must be submitted in writing to the corresponding author (jfr@unam.mx) and the Research Ethics Committee of the Facultad de Medicina, Universidad Nacional Autónoma de México (ciefm@unam.mx).
Funding: This work received funding from CONAHCYT–Mexico grant no. A1-S-10669 and PAPIIT-UNAM grant no. IN214122 given to JFR and CONAHCYT–Mexico Ph.D. fellowship no. 789431 given to AORM (CVU: 782944). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Competing interests: The authors have declared that no competing interests exist.
