Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3
Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3
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DOI：
10.1016/j.jocn.2013.10.021
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发表时间：
2014-06-01
影响因子：
2
通讯作者：
Pal, Pramod Kumar
中科院分区：
文献类型：
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作者：
Jhunjhunwala, Ketan;Netravathi, M.;Pal, Pramod Kumar
本研究旨在确定脊髓小脑性共济失调（SCA）1、2和3型患者锥体外系体征（EPS）的患病率和类型。对85例经遗传学证实的SCA患者（SCA 1 = 40，SCA 2 = 28，SCA 3 = 17）的EPS患病率和类型进行了评价。41例SCA患者（48.2%）有一种或多种类型的EPS。SCA 2、SCA 3和SCA 1的EPS患病率分别为60.7%、52.9%和37.5%。在SCA 2患者中，运动迟缓最常见（35.3%），其次是面部表情减少、姿势性震颤和肌张力障碍（各29.4%）、静止性震颤、蹒跚和僵硬（各23.5%）以及唇/颌震颤和舞蹈病（各11.8%）。SCA 3常见的EPS为运动迟缓（44.4%）、凝视、姿势性震颤和肌张力障碍（各33.3%）、面部表情减少和僵硬（各22.2%）。在SCA 1中，凝视是最常见的（53.3%），其次是肌张力障碍和运动迟缓（各33.3%）和姿势性震颤（26.7%）。在所有三组中，有和没有EPS之间的异常等位基因的平均重复长度没有显着差异。结论：运动迟缓、凝视、肌张力障碍和姿势性震颤是SCA中最常见的EPS。在SCA 1中，这些体征更常见于早期症状发作的年轻患者。(c)2013爱思唯尔有限公司保留所有权利。
This study aimed to determine the prevalence and type of extrapyramidal signs (EPS) in spinocerebeliar ataxia (SCA) type 1, 2 and 3. Eighty-five patients with genetically confirmed SCA (SCA1 = 40, SCA2 = 28, SCA3 = 17) were evaluated for the prevalence and types of EPS. Forty-one SCA patients (48.2%) had one or more types of EPS. The prevalence of EPS was 60.7% in SCA2, 52.9% in SCA3, and 37.5% in SCA1. Among SCA2 patients, bradykinesia was the most frequent (35.3%), followed by reduced facial expression, postural tremor and dystonia (29.4% each), rest tremor, titubation and rigidity (23.5% each), and lip/jaw tremor and chorea (11.8% each). In SCA3 the common EPS were bradykinesia (44.4%), staring look, postural tremor and dystonia (33.3% each), and reduced facial expression and rigidity (22.2% each). In SCA1, staring look was the most common (53.3%), followed by dystonia and bradykinesia (33.3% each), and postural tremor (26.7%). In all three groups, there was no significant difference in the mean length of repeat of the abnormal allele between those with and without EPS. To conclude bradykinesia, staring look, dystonia and postural tremor were the most frequent EPS observed in SCA. In SCA1, these signs were seen more often in younger patients with early onset of symptoms. (c) 2013 Elsevier Ltd. All rights reserved.