Dept of Neurology, St. Vincent's University Hospital, Dublin, Ireland School of Medicine and Medical Science, University College Dublin, Belfield, Dublin, Ireland.
Trinity Centre for Bioengineering, Trinity College Dublin, Dublin, Ireland.
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):331-5. doi: 10.1136/jnnp-2014-307699. Epub 2014 Jun 24.
Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-manifesting despite having reached an adequate age for penetrance. It is hypothesised that genetic, epigenetic and environmental factors may exert protective or deleterious effects on penetrance of AOPTD. By examining environmental exposure history in cervical dystonia patients and their similarly aged unaffected siblings we aimed to determine the role of previous environmental exposures in relation to disease penetrance.
A case-control study of 67 patients with cervical dystonia and 67 of their age-matched unaffected siblings was performed. Past environmental exposures were assessed using a detailed 124-question standardised questionnaire.
By univariate analysis, cervical dystonia patients, compared to their unaffected siblings, had an increased frequency of a history of car accidents with hospital attendance (OR 10.1, 95% CI 2.1 to 47.4, p=0.004) and surgical episodes (OR 6.5, 95% CI 1.76 to 23.61, p=0.005). Following multivariate analysis, car accidents with hospital attendance (OR 7.3, 95% CI 1.4 to 37.6, p=0.017) and all surgical episodes (OR 4.9, 95% CI 1.24 to 19.31, p=0.023) remained significantly associated with case status.
Cervical dystonia patients had a history, prior to symptom onset, of significantly more frequent episodes of surgery and of car accidents with hospital attendance than their age-matched unaffected siblings. Soft tissue trauma appears to increase risk of development of cervical dystonia in genetically predetermined individuals.
成人发病原发性扭转痉挛（AOPTD）是一种外显率低的常染色体显性疾病；尽管已经达到了外显的适当年龄，但大多数基因携带者并未表现出症状。据推测，遗传、表观遗传和环境因素可能对 AOPTD 的外显率产生保护或有害影响。通过检查颈肌张力障碍患者及其年龄相匹配的无病兄弟姐妹的环境暴露史，我们旨在确定先前环境暴露与疾病外显率的关系。
对 67 例颈肌张力障碍患者和 67 例年龄匹配的无病兄弟姐妹进行了病例对照研究。使用详细的 124 个问题的标准化问卷评估过去的环境暴露。
通过单变量分析，与无病兄弟姐妹相比，颈肌张力障碍患者有更多的因车祸而住院（OR 10.1，95%CI 2.1 至 47.4，p=0.004）和手术史（OR 6.5，95%CI 1.76 至 23.61，p=0.005）的经历。多变量分析后，车祸并住院（OR 7.3，95%CI 1.4 至 37.6，p=0.017）和所有手术史（OR 4.9，95%CI 1.24 至 19.31，p=0.023）仍与病例状态显著相关。
颈肌张力障碍患者在症状出现前有更多的手术史和车祸住院史，比年龄相匹配的无病兄弟姐妹更为频繁。软组织创伤似乎会增加遗传预定个体发生颈肌张力障碍的风险。
