Department of Neurology, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei, Taiwan.
National Taiwan University Hospital Bei-Hu Branch, Taipei, Taiwan.
Brain Behav. 2019 Oct;9(10):e01414. doi: 10.1002/brb3.1414. Epub 2019 Sep 16.
Spinocerebellar ataxia (SCA) presents with variable clinical presentations in addition to ataxia. The aim of this study was to reappraise the diverse nonataxic clinical characteristics of the five most common SCA subtypes in the Asian population.
The clinical presentations of 90 patients with genetically confirmed SCA1, SCA2, SCA3, SCA6, or SCA17 were assessed retrospectively between November 2008 and September 2018 at a tertiary referral center in Taiwan.
Parkinsonism was the most common nonataxic phenotype (21.1%), with a greater prevalence than Caucasian and other Asian SCA carriers. Patients with parkinsonism feature had fewer CAG repeats in SCA2 (31.0 ± 4.5 vs. 36.9 ± 6.0, p = .03) and SCA3 (65.6 ± 7.9 vs. 70.0 ± 4.2, p = .02) compared to those with pure ataxia presentation. The average age of symptom onset was significantly higher in the parkinsonism group of SCA2 (51.5 ± 8.9 vs. 35.3 ± 12.6 years, p = .007) than those with pure ataxia. Focal or segmental dystonia was identified in 4.4% of SCA patients (n = 2 each SCA2 and SCA3). Nonmotor symptoms, including impaired cognition (6.1% of SCA2 and 8.3% of SCA3 patients) and depression (9.1% of SCA2 and 8.3% of SCA3 patients), were also common nonataxic features in our SCA patients.
Parkinsonism, dystonia, and cognitive-psychiatric symptoms are common features in patients with SCA mutations in our population. Our study identifies a different clinical spectrum of SCA1, SCA2, SCA3, SCA6, and SCA17 compared to Caucasians.
除了共济失调外，脊髓小脑性共济失调（SCA）还具有多种不同的临床表现。本研究旨在重新评估亚洲人群中最常见的五种 SCA 亚型的不同非共济失调临床特征。
回顾性分析 2008 年 11 月至 2018 年 9 月在台湾一家三级转诊中心接受基因确诊的 90 例 SCA1、SCA2、SCA3、SCA6 或 SCA17 患者的临床表现。
帕金森病是最常见的非共济失调表型（21.1%），其患病率高于白种人和其他亚洲 SCA 携带者。具有帕金森病特征的患者在 SCA2（31.0±4.5 与 36.9±6.0，p=0.03）和 SCA3（65.6±7.9 与 70.0±4.2，p=0.02）中 CAG 重复次数更少。SCA2 帕金森病组的平均发病年龄明显高于单纯共济失调组（51.5±8.9 与 35.3±12.6 岁，p=0.007）。4.4%（各 2 例 SCA2 和 SCA3）的 SCA 患者存在局灶性或节段性肌张力障碍。非运动症状，包括认知障碍（6.1%的 SCA2 和 8.3%的 SCA3 患者）和抑郁（9.1%的 SCA2 和 8.3%的 SCA3 患者），也是我们 SCA 患者常见的非共济失调特征。
在我们的人群中，帕金森病、肌张力障碍和认知-精神症状是 SCA 突变患者的常见特征。与白种人相比，我们的研究确定了 SCA1、SCA2、SCA3、SCA6 和 SCA17 的不同临床谱。
