Secondary paroxysmal dyskinesias.

Paroxysmal dyskinesias (PxDs) are involuntary, episodic movements that include paroxysmal kinesigenic (PKD), paroxysmal nonkinesigenic (PNKD), and paroxysmal hypnogenic (PHD) varieties. Although most PxDs are primary (idiopathic or genetic), we found 17 of our 76 patients with PxD (22%) to have an identifiable cause for their PxD (10 men; mean age, 41.4 years). Causes included peripheral trauma (in three patients), vascular lesions (in four), central trauma (in four), kernicterus (in two), multiple sclerosis (in one), cytomegalovirus encephalitis (in one), meningovascular syphilis (in one), and migraine (in one). The latency from insult to symptom onset ranged from days (trauma) to 18 years (kernicterus), with a mean of 3 years. Nine patients had PNKD, two had PKD, five had mixed PKD/PNKD, and one had PHD. Hemidystonia was the most common expression of the paroxysmal movement disorder, present in 11 patients. Both of the patients with PKD had symptom durations of <5 minutes. Symptom duration ranged from 10 seconds to 15 days for PNKD and from 5 minutes to 45 minutes for mixed PKD/PNKD. There were no uniformly effective therapies, but anticonvulsant drugs, clonazepam, and botulinum toxin injections were the most beneficial. Awareness of the variable phenomenology and the spectrum of causes associated with secondary PxD will allow for more timely diagnosis and early intervention.     

药物浓度和病因对三磷酸腺苷治疗阵发性室上性心动过速的影响

本文报告23例次ATP治疗PSVT的效果,总有效率56.5％,9例次高浓度快速注射者8例转复。器质性心脏病者副作用较多,1例冠心速注高浓度ATP后,发生心室颤动和阿-斯氏综合征。这一结果提示:药物浓度和注射速度是影响疗效的主要因素,PSVT伴AVB者疗效也很低;病因和药物浓度是决定副作用的因素。因此,对于器质性心脏病者,尤其冠心病人,应避免高浓度快速静脉注射ATP。     

Ipsilateral cluster headache and chronic paroxysmal hemicrania: two case reports

We report two patients with ipsilateral attacks of cluster headache and chronic paroxysmal hemicrania. The first patient, a 33-year-old man, started having attacks of chronic cluster headache at the age of 27. At 33, they were replaced by typical attacks of ipsilateral chronic paroxysmal hemicrania which showed a dramatic improvement with indomethacin 150 mg daily. After two days of complete remission, cluster headache attacks reappeared and persisted until verapamil, 360 mg a day, was added to indomethacin. The second patient, a 45-year-old man, first developed attacks of episodic cluster headache at the age of 35. At 44, he experienced ipsilateral typical attacks of chronic paroxysmal hemicrania, and two months later attacks of cluster headache. Under verapamil 240 mg daily, attacks of cluster headache disappeared, but those of chronic paroxysmal hemicrania increased in frequency until indomethacin 150 mg daily was added. These observations suggest a close relationship but not a similarity between cluster headache and chronic paraoxysmal hemicrania, and show the practical therapeutic interest of maintaining this distinction.     

PNH者患红细胞膜结构损伤及膜脂与膜蛋白关系的探索

本文分析了20例PNH患者红细胞膜总脂,Ch/PIM比及磷脂组分,并比较了10例PNH红细胞膜AChE在PBS系统和生理盐水中的酶活性。发现PNH红细胞膜脂缺失严重,比正常少22％,但Ch/PIM比值及各磷脂相对含量均无明显改变。在PBS中AChE活性接近正常红细胞,但在生理盐水中明显低于正常红细胞,仅为正常的40％。表明PNH红细胞对补体敏感而溶血可能是由于补体导致膜脂缺失,进而破坏了红细胞膜结构的完整性而引起的,这也是AChE活性在低pH环境中酶活性比正常红细胞低的原因。     

Characterization of freezing of gait subtypes and the response of each to levodopa in Parkinson''s disease

To assess the effect of levodopa on distinct freezing of gait (FOG) subtypes in patients with 'off' FOG. Nineteen patients (12 men, mean age 62.0 +/- 8.4 years) with Parkinson's disease and clinically significant FOG during 'off' states were videotaped whilst walking 130 m during 'off' and 'on' states. Three independent observers characterized the type, duration, and clinical manifestations and quantified FOG by analyzing the videotapes. Their combined mean scores were used for statistical analysis. The intra-class correlation coefficient assessed inter-observer reliability. Wilcoxon and Friedman tests evaluated differences in mean frequencies of FOG characteristics. During 'off' states, FOG was elicited by turns (63%), starts (23%), walking through narrow spaces (12%) and reaching destinations (9%). These respective values were only 14, 4, 2 and 1% during 'on' states (P < 0.011). Moving forward with very small steps and leg trembling in place were the most common manifestations of FOG; total akinesia was rare. Most FOG episodes took <10 s and tended to be shorter during 'on' states. Levodopa significantly decreased FOG frequency (P < 0.0001) and the number of episodes with akinesia (P < 0.001). Distinction amongst FOG subtypes enables evaluation of distinctive therapeutic response. Levodopa helps in reducing the frequency and duration of 'off'-related FOG.     

阵发性睡眠性血红蛋白尿症患者3种GPI锚定蛋白表达的改变

目的 比较阵发性睡眠性血红蛋白尿症(PNH)患者血细胞表面3种糖基化磷脂酰肌醇(GPI)锚定蛋白表达情况。方法 流式细胞术检测25例PNH患者粒细胞表面GPI锚定蛋白CD55、CD59和CD87的表达水平，并分析它们在不同疾病状态下的改变。结果 PNH患者粒细胞表面3种GPI锚定蛋白间具有较好的相关性(P均＜0．05)，红细胞表面CD55和CD59也表现出相关(P＜0．01)，但与粒细胞表面CD55和CD59的缺乏情况并不一致。结论 PNH患者同一系血细胞表面GPI锚定蛋白呈平行关系，这有助于对PNH发病机制的进一步了解。     

发作性运动诱导性运动障碍的临床特征

目的:分析发作性运动诱导性运动障碍(PKC)的临床特征,并评定抗癫药物的疗效。方法:记录并分析31例PKC患者的一般资料、临床表现、脑电图和影像学改变及治疗情况。结果:本组患者平均起病年龄为16.8岁,10-20岁为起病高峰;最常见的发作诱因是突然运动起动(92%);发作时间均不超过1min;发作时表现为肌张力障碍(83.9%)、舞蹈样动作(16.1%)、口面部异常动作及其他(16.2%);71%发作频繁,超过1次/天;脑电图及影像学检查大多正常;小剂量抗癫药物治疗后50%-77.3%发作完全控制。结论:PKC是神经科常见的运动障碍性疾病,抗癫药物效果良好,应注意与癫鉴别,同时其与癫的相关性需要深入的临床随访研究。     

Abnormal movements in Rett syndrome are present before the regression period: a case study.

The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT.     

同时性后半规管与水平半规管性良性位置性眩晕

目的：探讨同时性后半规管与水平半规管性良性位置性眩晕（混合性良性位置性眩晕）的诊治方法。方法：联合应用Epley手法和Barbecue翻滚法对4例患者进行治疗，两次治疗间隔1d。结果：4例患者眩晕症状完全消失，随访至今无复发。结论：混合性良性位置性眩晕兼有后半规管与水平半规管性良性位置性眩晕的临床表现，联合采用Epley手法和Barbecue翻滚法治疗该病是可行的。     

Paroxysmal nocturnal haemoglobinuria: Nature's gene therapy?

The development of paroxysmal nocturnal haemoglobinuria (PNH) requires two coincident factors: somatic mutation of the PIG-A gene in one or more haemopoietic stem cells and an abnormal, hypoplastic bone marrow environment. When both of these conditions are met, the fledgling PNH clone may flourish. This review will discuss the pathophysiology of this disease, which has recently been elucidated in some detail.