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Background <p>Spinocerebellar ataxia type 3 (SCA3) is a rare monogenic hereditary neurodegenerative disease. It is the most common form of spinocerebellar ataxia worldwide, with diplopia being one of its most frequent symptoms. Diplopia has been reported to be associated with clinical phenotypes and daily living activities in various neurodegenerative diseases.</p> Objectives <p>Our objective is to investigate the association between diplopia and the clinical phenotype of SCA3.</p> Methods <p>We conducted a retrospective analysis of 182 patients with SCA3. Participants were categorized into two groups based on the presence or absence of diplopia: the diplopia group and the non-diplopia group. We used the Mann-Whitney U test to analyze phenotypic differences between the groups. We performed univariate and multivariate logistic regression analyses to identify factors associated with diplopia.</p> Results <p>In this study, the frequency of diplopia among subjects was 45.6%, while 54.4% of subjects did not experience diplopia. The diplopia group exhibited significantly higher ICARS scores (p = 0.002) . We found that visual impairment (p = 0.027, OR = 2.22) was a risk factor for diplopia and diplopia significantly affected the severity of ataxia (β = 7.77, p = 0.003).</p> Conclusion <p>Diplopia is common in patients with SCA3. Visual impairment has been identified as a risk factor for developing diplopia. Additionally, diplopia is associated with the severity of ataxia, necessitating intensive focus and interventions in the care of SCA3 patients.</p>

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The association between diplopia and clinical phenotypes in spinocerebellar ataxia type 3

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月10日

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  • Mei Zheng,
  • Mao-Lin Cui,
  • Wei Lin,
  • Zhuo-Ying Huang,
  • Bin Cai,
  • Shi-Rui Gan

摘要

Background

Spinocerebellar ataxia type 3 (SCA3) is a rare monogenic hereditary neurodegenerative disease. It is the most common form of spinocerebellar ataxia worldwide, with diplopia being one of its most frequent symptoms. Diplopia has been reported to be associated with clinical phenotypes and daily living activities in various neurodegenerative diseases.

Objectives

Our objective is to investigate the association between diplopia and the clinical phenotype of SCA3.

Methods

We conducted a retrospective analysis of 182 patients with SCA3. Participants were categorized into two groups based on the presence or absence of diplopia: the diplopia group and the non-diplopia group. We used the Mann-Whitney U test to analyze phenotypic differences between the groups. We performed univariate and multivariate logistic regression analyses to identify factors associated with diplopia.

Results

In this study, the frequency of diplopia among subjects was 45.6%, while 54.4% of subjects did not experience diplopia. The diplopia group exhibited significantly higher ICARS scores (p = 0.002) . We found that visual impairment (p = 0.027, OR = 2.22) was a risk factor for diplopia and diplopia significantly affected the severity of ataxia (β = 7.77, p = 0.003).

Conclusion

Diplopia is common in patients with SCA3. Visual impairment has been identified as a risk factor for developing diplopia. Additionally, diplopia is associated with the severity of ataxia, necessitating intensive focus and interventions in the care of SCA3 patients.