小脑前下动脉瘤11例临床分析

目的 总结小脑前下动脉瘤的临床和影像学特点，以及手术夹闭与介入治疗两种方法的治疗效果。 方法 回顾性分析首都医科大学附属北京天坛医院神经外科2012年1月-2019年12月收治的小脑前 下动脉瘤患者的基线信息、临床表现、动脉瘤特点、治疗方式和治疗效果。 结果 共收治11例小脑前下动脉瘤患者，其中显微外科手术夹闭动脉瘤5例，治愈率100%，术后2例 （40%）出现不完全性失语和手术侧面瘫，随访均无复发；介入治疗6例，5例（83.3%）完全栓塞动脉 瘤，其中2例（33.3%）闭塞动脉瘤远端载瘤动脉，1例（16.7%）栓塞治疗失败，术后1例（16.7%）出现 记忆力下降，1例（16.7%）出院1个月后动脉瘤破裂，并最终死亡。 结论 对于小脑前下动脉瘤，积极干预对于挽救患者生命意义重大，开颅手术夹闭和介入治疗都是 可选的治疗方式，两者均效果确切。     

Cerebellar artery infarction with sudden hearing loss and vertigo as initial symptoms: A case report

BACKGROUNDSudden hearing loss (SHL) is associated with serious systematic conditions such as neoplasms, vascular events, autoimmune diseases, infections, and iatrogenic injury. Some authors report that SHL can be an early warning sign of impending vertebrobasilar ischemic stroke. It is important to distinguish stroke from benign disease. CASE SUMMARYA 48-year-old male patient presented with SHL and vertigo as first symptoms. Diffusion-weighted imaging revealed high signal intensity in the left posterior inferior cerebellar artery territory of the cerebellar hemisphere and high signal intensity in the right pons and bridge cerebellar arm, confirming that the patient had cerebral infarction. Treatment with antiplatelet drugs, steroid anti-inflammatory drugs, and neurotrophic nerve therapy promoted blood circulation and removed blood stasis, and the symptoms of the patient were significantly improved. CONCLUSIONSHL and vertigo could be the initial symptoms of vertebrobasilar ischemic stroke.     

A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome

Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health has placed this small organelle in the spotlight. While the causal link between mutations in ciliary genes and central nervous system malformations and dysfunction is well established, the mechanisms by which primary cilia dysfunction acts on development and function of the CNS remain partly unknown. The recent article by Bashford and Subramanian in The Journal of Pathology describes a new mouse model for the neurodevelopmental ciliopathy Joubert syndrome, supporting a role for ciliary-mediated Hedgehog signaling on proliferation, survival, and differentiation of cerebellar granule cell progenitors. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

胎儿小脑蚓部不同超声纹理特征与胎儿畸形关系的初探郭永华 肖宝军

目的：总结后颅窝正常和异常的胎儿小脑及小脑蚓部的矢状面的声像学特征,了解小脑细微结构的改变与胎儿畸形的关系。     

GAD65抗体相关性小脑性共济失调一例报道及文献复习

目的探讨抗谷氨酸脱羧酶65(glutamic acid decarboxylase,GAD65)抗体相关性小脑性共济失调的临床表现、治疗及预后。方法报道一例抗GAD65抗体相关性小脑性共济失调患者的临床资料,进行诊断、鉴别诊断、治疗及预后分析。结果患者为中老年男性,急性起病,缓慢进展,主要表现为步态不稳并渐出现复视、不能独立行走;神经系统体检发现双眼上视受限、双侧跟膝胫试验及双手轮替试验欠稳准;血清及脑脊液抗GAD65抗体阳性;头颅MRI未见异常萎缩及责任病灶;大剂量甲强龙冲击后症状明显减轻。结论抗GAD65抗体相关性小脑性共济失调可有脑干及小脑受累症状,是一种可以治疗性疾病,早期诊断并积极治疗有望改善预后。     

The Role of the Cerebellum in Degenerative Ataxias and Essential Tremor: Insights From Noninvasive Modulation of Cerebellar Activity

Over the last three decades, measuring and modulating cerebellar activity and its connectivity with other brain regions has become an emerging research topic in clinical neuroscience. The most important connection is the cerebellothalamocortical pathway, which can be functionally interrogated using a paired-pulse transcranial magnetic stimulation paradigm. Cerebellar brain inhibition reflects the magnitude of suppression of motor cortex excitability after stimulating the contralateral cerebellar hemisphere and therefore represents a neurophysiological marker of the integrity of the efferent cerebellar tract. Observations that cerebellar noninvasive stimulation techniques enhanced performance of certain motor and cognitive tasks in healthy individuals have inspired attempts to modulate cerebellar activity and connectivity in patients with cerebellar diseases in order to achieve clinical benefit. We here comprehensively explore the therapeutic potential of these techniques in two movement disorders characterized by prominent cerebellar involvement, namely the degenerative ataxias and essential tremor. The article aims to illustrate the (patho)physiological insights obtained from these studies and how these translate into clinical practice, where possible by addressing the association with cerebellar brain inhibition. Finally, possible explanations for some discordant interstudy findings, shortcomings in our current understanding, and recommendations for future research will be provided. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.