The environmental epidemiology of primary dystonia.
The environmental epidemiology of primary dystonia.
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DOI：
10.7916/d8qn65gq
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发表时间：
2013-01-01
期刊：
影响因子：
--
通讯作者：
Gigante, Angelo F
中科院分区：
文献类型：
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作者：
Defazio, Giovanni;Gigante, Angelo F
背景：肌张力障碍是一种运动障碍，其特征是不自主的肌肉收缩，导致扭转运动和异常姿势。原发性肌张力障碍是最常见的形式，被认为是一个多因素的条件下，其中一个或多个基因联合收割机与环境因素达到diseases.METHODS：我们回顾了可能的环境风险因素为原发性早发性和迟发性肌张力障碍的对照研究。据报道，DYT1肌张力障碍患者的儿童早期疾病比携带DYT1突变但未表现出肌张力障碍的受试者更常见，因此增加了DYT1携带者中此类暴露导致肌张力障碍的可能性。相反，与对照受试者相比，几个环境因素与原发性成人发作的局灶性肌张力障碍相关。也就是说，眼部疾病、咽喉痛、特发性脊柱侧凸和重复性上肢运动动作似乎分别与眼睑痉挛（BSP）、喉肌张力障碍（LD）、颈肌张力障碍（CD）和上肢肌张力障碍相关。此外，在病例无关对照和基于家庭的病例对照研究中，都观察到咖啡饮用与BSP之间的负相关。支持与不同形式的原发性迟发性肌张力障碍的因果关系的其他证据仅适用于眼前段的疾病，写作活动，和咖啡intake.CONCLUSION：有合理的流行病学证据表明，一些环境因素是特定形式的原发性成人发作的局灶性肌张力障碍的风险修正因素。
BACKGROUND: Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease.METHODS: We reviewed controlled studies on possible environmental risk factors for primary early- and late-onset dystonia.RESULTS: Environmental factors associated with primary early-onset dystonia are poorly understood. Early childhood illnesses have been reported to be more frequent in patients with DYT1 dystonia than in subjects carrying the DYT1 mutation that did not manifest dystonia, thus raising the possibility that such exposures precipitate dystonia among DYT1 carriers. Conversely, several environmental factors have been associated with primary adult-onset focal dystonias compared to control subjects. Namely, eye diseases, sore throat, idiopathic scoliosis, and repetitive upper limb motor action seem to be associated with blepharospasm (BSP), laryngeal dystonia (LD), cervical dystonia (CD), and upper limb dystonia, respectively. In addition, an inverse association between coffee drinking and BSP has been observed in both case-unrelated control and family-based case-control studies. Additional evidence supporting a causal link with different forms of primary late-onset dystonia is only available for diseases of the anterior segment of the eye, writing activity, and coffee intake.CONCLUSION: There is reasonable epidemiological evidence that some environmental factors are risk-modifying factors for specific forms of primary adult-onset focal dystonia.