关键词： GDAP1   基因突变   奠基者效应   轴突损伤   髓鞘   腓肠神经活检   常染色体隐性   多发神经病   神经生理学   足畸形  

摘要： Background: Mutations in a gene encoding a novel protein of unknown function the ganglioside induced differentia tion associated protein 1 gene (GDAP1) are associated with the autosomal recessive Charcot Marie Tooth disease type 4A (CMT4A). Objective: To investigate the role of GDAP1 mutations in causing au tosomal recessive neuropathies in an Italian population. Methods and results: 76 patients with severe early onset polyneuropathy and possible autosomal recessiv e inheritance were screened for mutations. A T > G transversion (c.347 T > G) at codon 116 (M116R) was detected in four affected subjects from three apparently unrelated families. All patients had early onset of disease with pronounced foot deformities and impaired walking. Neurophysiological studies showed an extremel y variable expression. Sural nerve biopsies revealed signs of both de remyelina tion and axonal impairment, the most prominent feature being a severe loss of la rger fibres. Haplotype analysis of the GDAP1 locus demonstrated a common disease haplotype. Conclusions: The association of the mutation with a common haplotype suggested a common ancestor.

关键词： 帕金森病   运动皮质   经颅磁刺激   左旋多巴   评分量表   侧运动   临床评估   药物治疗   神经生理学   电生理特征  

摘要： Objective: To assess the effects of focal motor cortex stimulation on motor pe rformance and cortical excitability in patients with Parkinsons disease (PD). Methods: Repetitive transcranial magnetic stimulation (rTMS) was performed on th e left motor cortical area corresponding to the right hand in 12 offdrugpati ents with PD. The effects of subthreshold rTMS applied at 0.5 Hz (600 pulses) or at 10 Hz (2000 pulses) using a realor a shamcoil were compared to those obtained by a single dose of l dopa. The assessment included a clinical evalua tion by the Unified Parkinsons Disease Rating Scale and timed motor tasks, and a neurophysiological evaluation of cortical excitability by single and paired pulse TMS techniques. Results:RealrTMS at 10 or0.5 Hz, but notshamstim ulation, improved motor performance. High frequency rTMS decreased rigidity and bradykinesia in the upper limb contralateral to the stimulation, while low fre quency rTMS reduced upper limb rigidity bilaterally and improved walking. Concom itantly, 10 HzrTMS increased intracortical facilitation, while 0.5 HzrTMS restor ed intracortical inhibition. Conclusions: Low and highfrequency rTMS of the pri mary motor cortex lead to significant but differential changes in patients with PD both on clinical and electrophysiological grounds. The effect s on cortical excitability were opposite to previous observations made in health y subjects, suggesting a reversed balance of cortical excitability in patients w ith PD compared to normals. However, the underlying mechanisms of these changes remain to determine, as well as the relationship with clinical presentation and response to l dopa therapy. Significance: The present study gives some clues to appraise the role of the primary motor cortex in PD. Clinical improvement induc ed by rTMS was too short lasting to consider therapeutic application, but these results support the perspective of the primary motor cortex as a possible targe t for neuromodulation in PD.

关键词： 肌病   慢性酒精中毒   患者   毒性   临床   传导速度   t检验   电生理改变   神经电生理学   肌肉  

摘要： 目的　探讨慢性酒精中毒性肌病的临床和电生理改变特点。方法　对 2 6例慢性酒精中毒性肌病、13例慢性酒精中毒性周围神经病、2 1例慢性酒精中毒性神经和肌肉混合损害患者 ,以及 2 0例正常受试者进行详细询问病史、查体 ,并记录酒精摄入量和测定相关神经电生理指标 ,包括肌电图、单纤维肌电图、肌纤维传导速度、周围神经传导速度和诱发电位。结果　 (1)酒精中毒性肌病的主要临床表现为肢带肌的无力、肌肉疼痛和萎缩 ,肌病的症状和体征往往先于周围神经的损害。 (2 )与正常对照受试者比较 ,各组患者神经肌肉颤抖值均增大 (t检验 ,P<0 .0 5 ) ,纤维密度增加 (t检验 ,P<0 .0 5 ) ,周围神经病组患者的神经肌肉颤抖值和纤维密度改变尤为显著 (t检验 ,P<0 .0 1)。 (3)肌病组患者肌纤维传导速度明显减慢 (t检验 ,P<0 .0 5 ) ,其余两组患者无显著变化 (t检验 ,P>0 .0 5 )。结论　 (1)酒精中毒性肌病临床主要表现为对称性肢带肌萎缩、肌力减退和肌肉疼痛。 (2 )肌电图提示肌源性改变 ,特别是肌纤维传导速度减慢 ,是诊断酒精中毒性肌肉病变的客观指征。

关键词： CYCLIC ADP-RIBOSE   CA2+-INDUCED CA2+ RELEASE   INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR   LONG-TERM DEPRESSION   METABOTROPIC GLUTAMATE RECEPTORS   CAFFEINE-INDUCED CA2+   PRESYNAPTIC NERVE-TERMINALS   CEREBELLAR GRANULE NEURONS   HIPPOCAMPAL CA1 NEURONS   ROOT GANGLION NEURONS  

摘要： The endoplasmic reticulum ( ER) is the largest single intracellular organelle, which is present in all types of nerve cells. The ER is an interconnected, internally continuous system of tubules and cisterns, which extends from the nuclear envelope to axons and presynaptic terminals, as well as to dendrites and dendritic spines. Ca2+ release channels and Ca2+ pumps residing in the ER membrane provide for its excitability. Regulated ER Ca2+ release controls many neuronal functions, from plasmalemmal excitability to synaptic plasticity. Enzymatic cascades dependent on the Ca2+ concentration in the ER lumen integrate rapid Ca2+ signaling with long-lasting adaptive responses through modifications in protein synthesis and processing. Disruptions of ER Ca2+ homeostasis are critically involved in various forms of neuropathology.

关键词： 神经生理学  

ISBN: (纸本)781071757X

摘要： 本书由神经系统基本构成、神经细胞基本活动、神经系统主要功能和特殊感官感觉活动等四篇内容组成，附有参考文献、附图和词汇表。

关键词： 神经生理学   视觉   多巴胺   钙   果蝇  

关键词： 神经生理学   听觉   认知   语音识别   失匹配负波(MMN)   听觉事件相关电位(AEP)  

关键词： 医学院校   神经生理学  

ISBN: (纸本)7030143833

摘要： 普通高等教育“十五”国家级规划教材 全国高等医药院校教材 供临床、基础、预防、药学、检验、卫生管理等专业使用:全书分为两篇。上篇为基础神经科学，主要包括神经系统的发生、结构、功能与代谢特点等内容。下篇为临床神经科学，主要包括临床神经科学的常见症状、诊断方法及常见病、多发病的诊断、治疗等内容。