ALS诊断中需要注意的问题

<正>肌萎缩侧索硬化(Amyotrophic lateral sclerosis,ALS)是成人运动神经元病(motor neuropathy)中最常见的形式,年发病率为2/10万～3/10万。主要的病理特征为脊髓前角的a运动神经元、大脑皮质的Betz细胞及脑干的运动神经核(眼肌运动神经核除外)的神经元丢失,皮质脊髓束和皮质脑干束变性。临床表现为肌肉无力、肌肉萎缩、肌束震颤及肌张力增高、腱反射亢进、病理征(+),一般无感觉异常及大小便障碍。发病机制不清,缺乏有效的治疗方法,患者的存活期仅有3～5年。本文仅就诊断过程中需要注意的问题加以综述。     

Is Taste Altered in Patients with ALS?

Amyotrophic lateral sclerosis (ALS) is a degenerative neurological disease that affects the motor systems in patients but also may affect some sensory systems. Some ALS patients report taste changes that may decrease their oral intake and nutritional status. This study examined whether focal taste damage occurs in ALS patients compared to age/gender-matched adult healthy controls. An abbreviated Spatial Taste Test was administered to the fungiform and circumvallate papillae. Compared to healthy controls, ALS patients exhibited significantly lower taste intensities across the four basic tastes and significantly lower taste intensities at both the fungiform and vallate papillae, but no significant difference in whole mouth taste intensities. Seven out of nine ALS patients with self reported altered taste had tongue fasciculations, involuntary movements within the tongue dorsum due to lower motor neuron impairment (a common sign of bulbar ALS). Additionally, for patients taking riluzole taste perception at the fungiform papillae appears to be further reduced relative to the vallate papillae. This study suggests ALS decreases taste at both the fungiform and vallate papillae. In addition, riluzole may further damage the chorda tympani. Further studies need to be conducted to examine the etiology for taste loss.     

ALS and mercury intoxication: A relationship?

We report the case of an 81-year-old woman in whom clinical signs and features of electromyographic activity patterns were consistent with amyotrophic lateral sclerosis (ALS). Increased blood level and massive urinary excretion of mercury proved mercury intoxication. Despite a chelation treatment with Meso 2–3 dimercaptosuccininc acid (DMSA), she died after 17 months.

The pathophysiology of sporadic ALS remains unclear. However, the role of environmental factors has been suggested. Among some environmental factors, exposure to heavy metals has been considered and ALS cases consecutive to occupational intoxication and accidental injection of mercury have been reported. Although no autopsy was performed, we discuss the role of mercury intoxication in the occurrence of ALS in our case, considering the results of experimental studies on the toxicity of mercury for motor neuron.     

家族性ALS的临床特征及基因分析

目的探讨肌萎缩侧索硬化症(ALS)家系的临床特点及SOD1基因突变规律。方法详细分析一个FALS大家系的临床特征、肌电图改变、遗传方式,用PCR-SSCP法检测SOD1基因的突变。结果该家系有6代、237人,其中13人患病,8人死于ALS,具典型ALS症状,但起病前有较长一段时间肌肉纤颤期。PCR-SSCP法检测SOD1基因未发现突变,为非SOD1基因突变的ALS家系。结论(1)对于家族性肌跳的患者,宜动态观察其肌电图的改变,注重临床随访;(2)该家系可能存在一个非SOD1基因的、新的FALS致病基因。     

Motor neuron trophic factors: therapeutic use in ALS?

The modest effects of neurotrophic factor (NTF) treatment on lifespan in both animal models and clinical studies of Amyotropic Lateral Sclerosis (ALS) may result from any one or combination of the four following explanations: 1.) NTFs block cell death in some physiological contexts but not in ALS; 2.) NTFs do not rescue motoneurons (MNs) from death in any physiological context; 3.) NTFs block cell death in ALS but to no avail; and 4.) NTFs are physiologically effective but limited by pharmacokinetic constraints. The object of this review is to critically evaluate the role of both NTFs and the intracellular cell death pathway itself in regulating the survival of spinal and cranial (lower) MNs during development, after injury and in response to disease. Because the role of molecules mediating MN survival has been most clearly resolved by the in vivo analysis of genetically engineered mice, this review will focus on studies of such mice expressing reporter, null or other mutant alleles of NTFs, NTF receptors, cell death or ALS-associated genes.     

急进发展的ALS临床病理报告附文献复习

<正> 肌萎综侧索硬化症(Amyotrophc LateralSclerosis ALS)是Charcot在1869年首先报道。ALS是一种以中年以后发病为主,临床表现为进行性的肌萎缩,肌无力,选择性侵犯上运动神经元和下运动神经元的神经变性疾病。本文报告1例经临床与病理证实的三个月急进发展的散发性ALS,并就此例的临床与病理特征结合文献作了讨论。     

上肢DSSEPs对ALS与CSM鉴别诊断的研究

以上肢皮节体感诱发电位(DSSEPs)鉴别肌萎缩侧索硬化(ALS)与脊髓型颈椎病(CSM),结果发现前者阳性率8％,后者阳性率100％,二者存在极显著性差异(P<0.001)。进一步将异常结果与病人颈部MR对照分析,发现两方法对颈部病损定位诊断间存在线性关系。结果提示:此检查有助于ALS与CSM的鉴别。     

Decreased striatal dopamine-receptor binding in sporadic ALS: glutamate hyperactivity?

The pathogenesis of ALS may be related to increased glutamatergic excitotoxicity. The striatum receives massive glutamatergic input. Animal studies suggest that glutamate decreases striatal D2-receptor synthesis. In drug-naive, sporadic ALS patients we demonstrated decreased striatal D2-receptor binding in vivo that could be partially reversed by the glutamatergic transmission blocker riluzole. Our findings support the glutamatergic excitotoxicity hypothesis in sporadic ALS.     

家族性ALS的SOD1基因突变及发病机制研究进展

肌萎缩侧索硬化症(ALS)是运动神经元病的最常见类型。部分家族性肌萎缩侧索硬化症(familial ALS,FALS)与超氧化物歧化酶(SODl)基因突变相关。本文介绍人的正常 SODl 和突变 SODl 基因及其表达蛋白的特点,并简述人突变 SODl 的转基因模型,也对 FALS 中突变 SODI 的致病机制进行了总结和探讨,为 ALS 的研究和治疗策略提供新的思路。