Eur J Neurol. 2014 Apr;21(4):607-15. doi: 10.1111/ene.12350. Epub 2014 Feb 12.
To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature.
This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure.
In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features.
Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.
通过系统评价，评估常染色体显性小脑共济失调（ADCA），也称为遗传性命名的脊髓小脑共济失调（SCA）的独特或共同临床体征。
这是由两位独立审查员进行的截至 2012 年 9 月的电子数据库结构化搜索。选择了以多种语言书写的包含 ADCA 临床特征比例或描述的出版物。纳入灰色文献，并对检索到的出版物参考文献列表进行回溯搜索。初始选择基于标题和摘要筛选，然后对潜在相关出版物进行全文阅读。从基因确诊的患者中提取临床发现和人口统计学数据。使用卡方检验分析数据，并通过应用霍尔姆斯逐步下降程序控制α误差膨胀。
共分析了 1062 篇综述了 30 种 SCA 中 12141 名患者（52%为男性）的研究，平均发病年龄为 35±11 岁。在 3945 名患者的起始症状中，步态共济失调是最常见的症状（68%），而总体非共济失调症状的频率为 50%。一些 ADCA 通常在发病时出现非共济失调症状，如 SCA7（视力障碍）、SCA14（肌阵挛）和 SCA17（帕金森病）。因此，建立了两个分组：纯共济失调和主要非共济失调形式。在整个疾病过程中，构音障碍（90%）和扫视眼运动改变（69%）是最常见的非共济失调发现。一些 ADCA 仅局限于小脑功能障碍，而其他则有额外的表现。
常染色体显性小脑共济失调包含广泛的临床特征，具有高比例的非共济失调症状。某些特征可区分不同的遗传亚型。提出了一种新的 ADCA 发病时分类算法。
