Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia.

IF 3 3区医学 Q2 CLINICAL NEUROLOGY

Neurology-Genetics Pub Date : 2024-06-04 eCollection Date: 2024-06-01 DOI:10.1212/NXG.0000000000200162

Zhi-Xian Ye, Hao-Ling Xu, Na-Ping Chen, Xin-Yuan Chen, Meng-Cheng Li, Ru-Ying Yuan, Wei Lin, Liangliang Qiu, Minting Lin, Wan-Jin Chen, Ning Wang, Jian-Ping Hu, Ying Fu, Shi-Rui Gan

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引用次数: 0

Abstract

Background and objectives: Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia that occurs worldwide. Clinical patterns were observed, including the one characterized by marked spastic paraplegia. This study investigated the clinical features, disease progression, and multiparametric imaging aspects of patients with SCA3.

Methods: We retrospectively analyzed 249 patients with SCA3 recruited from the Organization for Southeast China for cerebellar ataxia research between October 2014 and December 2020. Of the 249 patients, 145 were selected and assigned to 2 groups based on neurologic examination: SCA3 patients with spastic paraplegia (SCA3-SP) and SCA3 patients with nonspastic paraplegia (SCA3-NSP). Participants underwent 3.0-T brain MRI examinations, and voxel-wise and volume-of-interest-based approaches were used for the resulting images. A tract-based spatial statistical approach was used to investigate the white matter (WM) alterations using diffusion tensor imaging, neurite orientation dispersion, and density imaging metrics. Multiple linear regression analyses were performed to compare the clinical and imaging parameters between the 2 groups. The longitudinal data were evaluated using a linear mixed-effects model.

Results: Forty-three patients with SCA3-SP (mean age, 37.58years ± 11.72 [SD]; 18 women) and 102 patients with SCA3-NSP (mean age, 47.42years ± 12.50 [SD]; 39 women) were analyzed. Patients with SCA3-SP were younger and had a lower onset age but a larger cytosine-adenine-guanine repeat number, as well as higher clinical severity scores (all corrected p < 0.05). The estimated progression rates of the Scale for the Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale scores were higher in the SCA3-SP subgroup than in the SCA3-NSP subgroup (SARA, 2.136 vs 1.218 points; ICARS, 5.576 vs 3.480 points; both p < 0.001). In addition, patients with SCA3-SP showed gray matter volume loss in the precentral gyrus with a decreased neurite density index in the WM of the corticospinal tract and cerebellar peduncles compared with patients with SCA3-NSP.

Discussion: SCA3-SP differs from SCA3-NSP in clinical features, multiparametric brain imaging findings, and longitudinal follow-up progression.

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脊髓小脑共济失调 3 型伴痉挛性截瘫的疾病进展和多参数成像特征

背景和目的：脊髓小脑共济失调 3 型（SCA3）是一种发生于全球的遗传性共济失调。临床上观察到一些模式，包括以明显痉挛性截瘫为特征的模式。本研究对 SCA3 患者的临床特征、疾病进展和多参数成像方面进行了调查：我们回顾性分析了2014年10月至2020年12月期间从中国东南小脑共济失调研究组织招募的249名SCA3患者。在这 249 名患者中，根据神经系统检查结果选出 145 名患者，并将其分为两组：SCA3痉挛性截瘫患者（SCA3-SP）和SCA3非痉挛性截瘫患者（SCA3-NSP）。受试者接受了 3.0-T 脑部磁共振成像检查，所得图像采用了基于体素和感兴趣体积的方法。采用基于道的空间统计方法，利用弥散张量成像、神经元定向弥散和密度成像指标来研究白质（WM）的改变。对两组患者的临床和成像参数进行了多元线性回归分析比较。采用线性混合效应模型对纵向数据进行评估：分析了 43 名 SCA3-SP 患者（平均年龄为 37.58 岁 ± 11.72 [标码]；18 名女性）和 102 名 SCA3-NSP 患者（平均年龄为 47.42 岁 ± 12.50 [标码]；39 名女性）。SCA3-SP患者更年轻，发病年龄更小，但胞嘧啶-腺嘌呤-鸟嘌呤重复数目更大，临床严重程度评分更高（校正后的P<0.05）。与SCA3-NSP亚组相比，SCA3-SP亚组共济失调评估与评分量表（SARA）和国际合作共济失调评分量表评分的估计进展率更高（SARA，2.136分 vs 1.218分；ICARS，5.576分 vs 3.480分；均为P < 0.001）。此外，与SCA3-NSP患者相比，SCA3-SP患者的中央前回灰质体积减少，皮质脊髓束和小脑脚的WM神经细胞密度指数降低：讨论：SCA3-SP与SCA3-NSP在临床特征、多参数脑成像结果和纵向随访进展方面均存在差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurology-Genetics Medicine-Neurology (clinical)

CiteScore

6.30

自引率

3.20%

发文量

107

审稿时长

15 weeks

期刊介绍： Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.