Kim Minkyeong, Ahn Jong Hyeon, Mun Jun Kyu, Choi Eun Hyeok, Kim Ji Sun, Youn Jinyoung, Cho Jin Whan
Department of Neurology, Gyeongsang National University Hospital, Jinju, Korea.
Department of Neurology, Samsung Medical Center, Seoul, Korea.
J Clin Neurol. 2021 Apr;17(2):242-248. doi: 10.3988/jcn.2021.17.2.242.
Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there are few reports on the early-stage extracerebellar signs in various SCA subtypes. This study explored the clinical and magnetic resonance imaging (MRI) characteristics of early-stage SCAs in the Korean population.
We retrospectively reviewed the medical records of genetically confirmed SCA patients with a disease duration of <5 years. Data on baseline characteristics, extracerebellar signs, and initial MRI findings were organized based on SCA subtypes.
This study included 117 SCA patients with a median age at onset of 40.6 years. The family history was positive in 71.8% of the patients, and the median disease duration and the score on the Scale for the Assessment and Rating of Ataxia at the initial visit were 2.6 years and 5.0, respectively. SCA3 was the most prevalent subtype, and oculomotor abnormalities were the most frequent extracerebellar signs in early-stage SCAs. Saccadic slowing was characteristic of SCA2 and SCA7, and gaze-evoked nystagmus was prominent in SCA6. Parkinsonism was relatively frequent in SCA8 and SCA3. Decreased visual acuity was specific for SCA7. Dementia was not an early manifestation of SCAs. Brain MRI revealed a pattern of pontocerebellar atrophy in SCA2 and SCA7, while SCA6 demonstrated only cerebellar cortical atrophy.
SCA patients exhibited diverse extracerebellar signs even in the early stage. Specific extracerebellar signs were characteristic of specific subtypes, which could facilitate differential diagnoses of early-stage SCAs.
脊髓小脑共济失调（SCA）是遗传性共济失调最常见的形式。小脑外体征已有充分描述，有助于区分SCA亚型。然而，关于各种SCA亚型早期小脑外体征的报道较少。本研究探讨了韩国人群中早期SCA的临床和磁共振成像（MRI）特征。
我们回顾性分析了疾病病程<5年的基因确诊SCA患者的病历。根据SCA亚型整理了基线特征、小脑外体征和初始MRI表现的数据。
本研究纳入了117例SCA患者，发病年龄中位数为40.6岁。71.8%的患者有家族史，疾病病程中位数和初诊时共济失调评估与评分量表得分分别为2.6年和5.0。SCA3是最常见的亚型，动眼神经异常是早期SCA最常见的小脑外体征。扫视减慢是SCA2和SCA7的特征，视动性眼球震颤在SCA6中突出。帕金森综合征在SCA8和SCA3中相对常见。视力下降是SCA7的特异性表现。痴呆不是SCA的早期表现。脑部MRI显示SCA2和SCA7有脑桥小脑萎缩模式，而SCA6仅表现为小脑皮质萎缩。
SCA患者即使在早期也表现出多样的小脑外体征。特定的小脑外体征是特定亚型的特征，这有助于早期SCA的鉴别诊断。
