A genetic study of idiopathic focal dystonias

The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis (n = 21), blepharospasm (n = 18) and writer's cramp (n = 4). They generated a potential population of 235 first-degree relatives, and 168 out of 179 living first-degree relatives were examined. Ten relatives with dystonia were identified in ten families. Another two parents from two of the same group of ten families were affected according to the family history. The majority of the secondary cases (six patients, five siblings, and one child) were not aware of any dystonia. The tendency for affected relatives to have the same type of dystonia as index patients was observed only for torticollis. Overall, 23% of index patients had relatives with dystonia. Segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dystonia.     

Personality traits associated with blepharospasm: A comparison with healthy subjects,patients with facial hemispasm and patients with hyperhidrosis

The aim of this study is to explore the existence of specific personality traits related to patients with blepharospasm (BSP), treated with injections of botulinum neurotoxin (BTX). Sixteen patients with BSP, 22 with facial hemispasm (HFS), 20 with essential hyperhidrosis (EH) and 20 healthy controls (HCs) completed the Temperament and Character Inventory-Revised to explore personality traits based on Cloninger's Psychobiological Model. The results revealed that the four groups differed on the Harm Avoidance (HA) scale and fear of uncertainty subscale, as well as on Persistence (PS). On HA, BSP group did not differ from HCs, but had higher scores than HFS and EH groups. On PS scales, BSP and HFS patients did not differ between them but showed higher score than HCs and EH patients. Our findings suggested that a high level of Harm Avoidance and Persistence seem to be associated with BSP, when compared with any disorders treated with BTX. An evaluation of the personality traits might help the clinicians to early identify BSP patients at greater risk of developing psychopathological disturbances.     

良性特发性眼睑痉挛的发病危险因素分析

目的 探讨良性特发性眼睑痉挛(benign essential blepharospasm,BEB)发病的危险因素以及各因素的作用强度.方法 病例组为2009年4月至2010年3月在中国医学科学院北京协和医院神经内科门诊就诊的BEB患者100例,可合并相邻部位的肌张力障碍.对照组来自同期神经科门诊就诊的偏侧面肌痉挛(hemifacial spasm,HFS)患者100例以及健康对照40名,男女比例与病例组匹配,无锥体外系及其他神经系统疾病.对所有研究对象进行问卷调查,包括一般情况、社会行为因素、环境因素、精神因素、遗传因素、既往病史.数据录入SPSS 11.0软件进行Logistic回归分析.结果 多因素回归分析显示,眼病(OR=5.818,95% CI 2.510～13.486)、焦虑(OR=3.433,95% CI 1.548～7.610)、抑郁(OR=2.894,95% CI 1.091～7.681)与BEB呈显著正相关,饮用咖啡(OR=0.251,95% CI 0.080～0.784)与BEB呈显著负相关(均P＜0.05).结论 眼疾、焦虑、抑郁可能是BEB发病的独立危险因素;一过性意识障碍的头面部外伤史与BEB有一定的相关性;咖啡饮用史可能是BEB的保护因素.局部损伤及精神因素作为BEB发病的危险因素可能比遗传因素更重要.

Abstract：

Objective To explore the risk factors of benign essential blepharospasm( BEB) and each factor' s intensity.Methods Totally 100 patients with BEB including Meige and cranial-cervical without other neurological abnormalities were recuited from the outpatient clinic of Department of Neurology, Peking Union Medical College Hospital from April 2009 to March 2010 as case group.At the same time, 100 outpatients diagnosed with idiopathic hemifacial spasm ( HFS) and 40 healthy controls without extrapyramidal diseases or other neurological diseases were recuited from the same outpatient clinic.All the cases and controls were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, phychiatrical factors, genetic factors, previous diseases.The data was analysed by Logistic regression model with the statistical software SPSS 11.0.Results Multivariate analysis indicated that eye disease (OR = 5.818, 95% CI 2.510-13.486), anxiety (OR=3.433, 95% CI 1.548-7.610) and depression (OR =2.894, 95% CI 1.091-7.681) were positively related with BEB, whereas coffee drinking (OR = 0.251, 95% CI 0.080-0.784) had a negative relationship with BEB ( all P ＜ 0.05 ).Conclusions The risk factors of BEB are eye diseases, anxiety and depression.Coffee drinking is protective for BEB.The results suggest that local injury and phychiatrical factors may be more important than genetic factor in the aetiology of BEB.     

A型肉毒毒素治疗面肌痉挛、眼睑痉挛疗效观察

目的观察A型肉毒毒素治疗面肌、眼睑痉挛的疗效。方法采用A型肉毒毒素局部注射治疗偏侧面肌痉挛51例、眼睑痉挛8例,并使用Cohen和Albert量表对疗效进行评估。结果31例(52.5%)症状完全缓解,22例(37.2%)明显改善,6例(10.1%)部分改善,疗效平均持续约9～33周,复发者重复注射仍有效。不良反应可出现眼睑闭合不全、面肌无力、眼睑下垂等共18例,均在4周内恢复。结论局部注射A型肉毒毒素确为一种安全有效的治疗面肌、眼睑痉挛的方法。     

眼睑痉挛的诊断及治疗

目的　观察原发性眼睑痉挛 30例的临床表现特点和A型肉毒毒素对原发性眼睑痉挛的治疗效果。方法　采用Cohen′s诊断标准对原发性眼睑痉挛进行分型 ,并在肌电图仪的引导下使用A型肉毒毒素对眼轮匝肌进行多点注射。结果　 3～ 6天症状出现缓解 ,1周症状明显缓解 ,2周症状缓解最明显 ,有效率 10 0 %。原发性眼睑痉挛有效作用时间是 10～ 35周 ,平均为 17.7周。结论　A型肉毒毒素局部注射是治疗眼睑痉挛的一种安全、有效、简便的方法     

A型肉毒毒素治疗面肌、眼睑痉挛59例临床观察

目的探讨A型肉毒毒素治疗面肌、眼睑痉挛的疗效。方法采用A型肉毒毒素局部注射治疗偏侧面肌痉挛51例、眼睑痉挛8例,并使用Cohen和Albert量表进行评估。结果症状完全缓解占51.45%,明显改善占37.5%,部分改善占11.2%,疗效平均持续约3～6个月,复发者重复注射仍有效,出现眼睑闭合不全、面肌无力、眼睑下垂共18例,均恢复。结论局部注射A型肉毒毒素确为一种安全有效、简便易行的治疗面肌、眼睑痉挛的方法。     

The stimulus intensity modifies the blink reflex recovery cycle in healthy subjects and in blepharospasm

OBJECTIVE: The excitability of human brainstem interneurons is measured by the blink reflex recovery cycle and is abnormal in blepharospasm. We wondered whether the results of this paradigm depend on the stimulus intensity. METHODS: We investigated the blink reflex recovery cycle in 13 healthy control subjects and in 13 patients with blepharospasm (7 of them treated with botulinum toxin) using 4 levels of stimulus intensity (5, 12, 19 and 26 mA) and two interstimulus intervals (ISIs, 150 or 250 ms). RESULTS: In all groups the inhibition of the second R2 response was reduced with strong stimulus intensities: In controls, the inhibition of the second R2 decreased significantly (e.g. young controls, ISI 150 ms, from 89.6+/-15.6% at 5 mA to 21.9+/-49.7% at 26 mA, mean+/-standard deviation). In patients the R2 inhibition found at 5 mA was converted in an R2 facilitation at 26 mA, irrespective of the status of treatment. In addition, the patients' results at 5 mA did not differ significantly from the controls' results at 26 mA. CONCLUSIONS: The R2 inhibition and its sensitivity to detect abnormal interneuronal excitability depend on the stimulus intensity, which may act by modifying the excitability of the R2 interneurons.     

Efficacy and side effects of botulinum toxin treatment for blepharospasm and hemifacial spasm

Purpose : To analyse the effectiveness and rate of side effects of botulinum toxin treatment for blepharospasm and hemifacial spasm.
Methods : In a prospective trial, 81 patients with blepharospasm and 70 with hemifacial spasm were treated with botulinum toxin A in the neuro-ophthalmology clinic at St Vincent's Hospital, Melbourne. Some 989 treatments were given and the mean follow-up time was 28.7 months.
Results : The duration of action was longer for patients with hemifacial spasm than for those with blepharospasm (median 12.0 weeks compared with 7.0 weeks, P <0.0001). There was no change in the duration of effect over time with repeated treatments of the same dose (F = 0.4, P > 0.05). Once an effective dosage was reached, increasing the dose further did not prolong the duration of effect. There were no systemic side effects, but there were a number of local transient side effects. The most significant side effect was ptosis, which occurred in 12% of treatments given to those patients with blepharospasm and hemifacial spasm.
Conclusion : Botulinum toxin is an effective treatment for blepharospasm and hemifacial spasm, but there are a number of side effects, the most significant being ptosis.