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）：情节性共济失调综合征是罕见的神经系统疾病，其特征是不一致和不平衡，通常与相关的进行性共济失调。早期发作的发作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，这些钾和钙通道广泛分布在神经系统中，在小脑中具有特殊的丰度。遗传定义有助于扩大情节性共济失调的临床范围，现在众所周知，与癫痫，肌张力障碍，偏瘫偏头痛，肌无规，肌动脉症甚至昏迷相关。这些离子通道基因中的突变如何引起多种阵发性神经系统症状并导致进行性神经变性。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有很大差异，这表明其他因素可能会调节引起疾病的突变的表型表达。情节性共济失调在临床和遗传上是异质的。许多患有发作性共济失调的患者，尤其是成年初期开始的患者，正在等待进一步的遗传特征和突变鉴定。 该赠款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，该会议将召集临床医生，基础研究人员和非专业组织的代表，研究重点是情节性共济失调。 ORD/NINDS资助了一个多中心项目，以招募患者来定义神经系统病理的自然病程（CINCH，用于神经通道病的临床研究），包括情节性共济失调，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。这次拟议的会议是3个国际会议的第二次会议，这是实现Cinch目标的关键方面。 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.