Data from: Predictors of alcohol responsiveness in dystonia

Objective: To determine predictors of alcohol responsiveness in a large
cohort of dystonia patients. Methods: 2159 participants with dystonia were
prospectively enrolled in the cross-sectional Dystonia Coalition
multicenter study. Patients with secondary, combined or confirmed genetic
dystonia (total n=164) or unknown alcohol responsiveness (n= 737) were
excluded. Patients answered a standardized questionnaire and were
clinically examined using a standardized video protocol and the
Burke-Fahn-Marsden Dystonia Rating Scale. Alcohol responsiveness was
determined by patients’ self-report. Results: 1258 patients with isolated
dystonia (mean age: 59.5±12.2 years, female n=898) met the inclusion
criteria; 369 patients (29.3%) reported improvement of dystonia after
alcohol consumption. Alcohol responsiveness was not related to sex (p =
.742), age (p = .715) or severity of dystonia (p = .623). Age at onset was
lower in patients who responded to alcohol (p < .001). Alcohol
responsiveness differed across dystonia subgroups (multifocal/generalized
> segmental (p = .014); cervical and laryngeal > cranial and
limb (p < .001)) and was related to a positive family history of
movement disorders (p = .001), and presence of tremor (p < .001).
Conclusion: The association of alcohol responsiveness with a positive
family history for movement disorders, generalized dystonia, and an
earlier age at onset suggests that dystonia patients with an underlying
genetic contribution may be more likely to respond beneficially to
alcohol. The fact that dystonic tremor may respond to alcohol is in
keeping with the observation that the intake of GABAergic drugs may have a
beneficial effect in a proportion of patients.

研究目的：明确一大队列肌张力障碍患者的酒精反应性预测因素。
方法：2159名肌张力障碍受试者前瞻性入组横断面肌张力障碍联盟（Dystonia Coalition）多中心研究。排除继发性、合并型或确诊遗传性肌张力障碍患者（共164例）以及酒精反应性未知的患者（737例）。受试者填写标准化问卷，并通过标准化视频方案及Burke-Fahn-Marsden肌张力障碍评定量表（Burke-Fahn-Marsden Dystonia Rating Scale）进行临床检查。酒精反应性通过患者自我报告确定。
结果：1258名孤立性肌张力障碍患者（平均年龄59.5±12.2岁，女性898例）符合纳入标准；其中369例（29.3%）报告饮酒后肌张力障碍症状改善。酒精反应性与性别（p=0.742）、年龄（p=0.715）或肌张力障碍严重程度（p=0.623）均无关联。酒精应答患者的发病年龄更低（p<0.001）。酒精反应性在不同肌张力障碍亚组间存在显著差异：多灶性/全身性肌张力障碍患者的酒精反应性高于节段性肌张力障碍患者（p=0.014）；颈部及喉部肌张力障碍患者的酒精反应性高于颅部与肢体肌张力障碍患者（p<0.001）；且与运动障碍阳性家族史（p=0.001）及震颤症状共存（p<0.001）相关。
结论：酒精反应性与运动障碍阳性家族史、全身性肌张力障碍及较早发病年龄的关联提示，存在潜在遗传贡献的肌张力障碍患者可能更易从酒精摄入中获益。肌张力障碍性震颤可对酒精产生应答这一发现，与γ-氨基丁酸能（GABAergic）药物可在部分患者中发挥有益治疗作用的临床观测结果相符。