Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.
Cerebellum. 2010 Jun;9(2):232-9. doi: 10.1007/s12311-010-0155-z.
To investigate the frequency, details, and consequences of falls in patients with autosomal dominant spinocerebellar ataxias (SCAs) and to derive specific disease-related risk factors that are associated with an increased fall frequency. Two hundred twenty-eight patients with SCA1, SCA2, SCA3, or SCA6, recruited from the EuroSCA natural history study, completed a fall questionnaire that assessed the frequency, consequences, and several details of falls in the previous 12 months. Relevant disease characteristics were retrieved from the EuroSCA registry. The database of the natural history study provided the ataxia severity scores as well as the number and nature of non-ataxia symptoms. Patients (73.6%) reported at least one fall in the preceding 12 months. There was a high rate of fall-related injuries (74%). Factors that were associated with a higher fall frequency included: disease duration, severity of ataxia, the presence of pyramidal symptoms, the total number of non-ataxia symptoms, and the genotype SCA3. Factors associated with a lower fall frequency were: the presence of extrapyramidal symptoms (more specifically dystonia of the lower limbs) and the genotype SCA2. The total number of non-ataxia symptoms and longer disease duration were independently associated with a higher fall frequency in a logistic regression analysis, while the presence of extrapyramidal symptoms was independently associated with a lower fall frequency. Our findings indicate that, in addition to more obvious factors that are associated with frequent falls, such as disease duration and ataxia severity, non-ataxia manifestations in SCA play a major role in the fall etiology of these patients.
为了调查常染色体显性遗传性小脑共济失调（SCA）患者的跌倒频率、细节和后果，并得出与跌倒频率增加相关的特定疾病相关风险因素。我们招募了来自 EuroSCA 自然史研究的 228 名 SCA1、SCA2、SCA3 或 SCA6 患者，他们完成了一份跌倒问卷，评估了过去 12 个月内的跌倒频率、后果和几个细节。从 EuroSCA 登记处检索到相关疾病特征。自然史研究的数据库提供了共济失调严重程度评分以及非共济失调症状的数量和性质。患者（73.6%）报告在过去 12 个月内至少有一次跌倒。跌倒相关损伤的发生率很高（74%）。与更高跌倒频率相关的因素包括：疾病持续时间、共济失调严重程度、锥体束症状存在、非共济失调症状总数以及 SCA3 基因型。与更低跌倒频率相关的因素包括：锥体外系症状（更具体地说是下肢的肌张力障碍）和 SCA2 基因型。在逻辑回归分析中，非共济失调症状总数和更长的疾病持续时间与更高的跌倒频率独立相关，而锥体外系症状的存在与更低的跌倒频率独立相关。我们的研究结果表明，除了与频繁跌倒相关的更明显的因素，如疾病持续时间和共济失调严重程度外，SCA 中的非共济失调表现也在这些患者的跌倒病因中起主要作用。
