International Conference on Episodic Ataxia Syndromes

阵发性共济失调综合征国际会议

• 批准号: 7059049
• 负责人: JOANNA C JEN
• 金额: $ 3.52万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-11-01 至 2006-10-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7059049
• 关键词: ataxia; central nervous system disorders; dystonia; epilepsy; meeting /conference /symposium; migraine; travel

DESCRIPTION (provided by applicant): Episodic ataxia syndromes are rare neurological conditions characterized by spells of incoordination and imbalance, often with associated progressive ataxia. The causative gene lesions for episodic ataxia of early onset include neuronal voltage-gated potassium and calcium channels that are widely distributed in the nervous system with special abundance in the cerebellum. Genetic definition has helped broaden the clinical spectrum of episodic ataxia, now known to be variably associated with epilepsy, dystonia, hemiplegic migraine, myasthenia, and even coma. How mutations in these ion channel genes cause a broad spectrum of paroxysmal neurological symptoms and lead to progressive neurodegeneration is not understood. Furthermore, there is much variation regarding clinical manifestations and response to medications even among patients with the same mutations, suggesting that other factors may modulate the phenotypic expression of disease-causing mutations. Episodic ataxia is clinically and genetically heterogeneous; many patients with episodic ataxia, especially those with onset after early adulthood, await further genetic characterization and mutation identification. This grant requests support for a 2-day meeting to be held in Santa Monica, CA that will bring together clinicians, basic researchers, and representatives of lay organizations with a research focus on episodic ataxia. ORD/NINDS has funded a multicenter project to recruit patients to define the natural course of neurological channelopathies (CINCH, for clinical investigation of neurological channelopathies) including episodic ataxia and to develop treatment strategies for episodic ataxia and other related neurological disorders. This proposed meeting is the second in a sequence of 3 international meetings proposed as a key aspect of achieving the goals of CINCH. The meeting's goals will be 1) to review clinical studies and animal models to summarize current understanding concerning the pathogenesis of episodic ataxia, 2) to evaluate the rationale for various treatment strategies and to discuss the feasibility of clinical trials to validate various treatment options, and 3) to consider shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal conditions such as epilepsy and migraine.

描述（由申请人提供）：发作性共济失调综合征是一种罕见的神经系统疾病，其特征是间歇性不协调和不平衡，通常伴有进行性共济失调。早发性阵发性共济失调的致病基因病变包括神经元电压门控钾和钙通道，它们广泛分布于神经系统中，在小脑中特别丰富。遗传学定义有助于拓宽发作性共济失调的临床谱，现在已知发作性共济失调与癫痫、肌张力障碍、偏瘫性偏头痛、肌无力甚至昏迷有关。这些离子通道基因的突变如何引起广泛的阵发性神经系统症状并导致进行性神经退行性变尚不清楚。此外，即使在具有相同突变的患者中，临床表现和对药物的反应也存在很大差异，这表明其他因素可能调节致病突变的表型表达。发作性共济失调在临床和遗传上是异质性的;许多发作性共济失调患者，特别是那些在成年早期发病的患者，等待进一步的遗传特征和突变鉴定。 该补助金要求支持在加利福尼亚州圣莫尼卡举行的为期2天的会议，该会议将汇集临床医生，基础研究人员和非专业组织的代表，研究重点是偶发性共济失调。ORD/NINDS资助了一个多中心项目，招募患者以确定神经通道病（CINCH，用于神经通道病的临床研究）的自然病程，包括发作性共济失调，并制定发作性共济失调和其他相关神经系统疾病的治疗策略。拟议的这次会议是作为实现CINCH目标的一个关键方面而提议的三次国际会议中的第二次。会议的目标将是1）审查临床研究和动物模型，以总结目前对发作性共济失调发病机制的理解，2）评估各种治疗策略的基本原理，并讨论临床试验的可行性，以验证各种治疗方案，以及3）考虑发作性共济失调和其他更普遍的阵发性疾病（如癫痫和偏头痛）的共同机制。