Symposium on Pediatric Neurotransmitter Disease

小儿神经递质疾病研讨会

• 批准号: 6456593
• 负责人: K Michael GIBSON
• 金额: $ 4.8万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-05-01 至 2003-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6456593
• 关键词: central nervous system disorders; inborn metabolism disorder; meeting /conference /symposium; neurotransmitter metabolism; pediatrics; travel

DESCRIPTION (provided by applicant) Pediatric neurotransmitter diseases (PNDs) are recently identified inborn errors of metabolism affecting the central nervous system (CNS). Neurotransmitters such as dopamine, norepinephrine, serotonin and GABA are critical in CNS activities including regulation of body temperature and pain threshold, control of behavior and motor function, neuronal excitation and inhibition, memory, and a host of other processes. PNDs include aromatic L-arnino acid decarboxylase deficiency (ALADD), GTP cyclohydrolase deficiency (Segawa disease or DOPA-responsive dystonia), tyrosine hydroxylase deficiency (THD) and succinic semialdehyde dehydrogenase (SSADH) deficiency (or 4-hydroxybutyric aciduria). Although considered rare, the aggregate incidence of these disorders may be much higher due to a large number of undiagnosed cases. This is because the majority of screening tests used to identify inborn errors of metabolism focus on blood and urine, while the PNDs are often detected only through careful analysis of cerebrospinal fluid (CSF). Only with appropriate testing can the true incidence of the PNDs become clear. Some cases of idiopathic encephalopathy and cerebral palsy have been diagnosed as PNDs. Early diagnosis is vital as irreversible neurologic damage may occur. There are available therapeutic interventions for many of the PNDs, but these cannot be employed without accurate diagnosis. In addition, future genetic counseling relies on the correct differential diagnosis. As research on PNDs is only in its infancy, we feel that a workshop to educate both scientists and lay individuals is timely and important. Attendees will include metabolic specialists, neuroscientists, physicians, nurses and lay community members who have an active interest in the PNDs. Our objectives for the proposed conference include: 1) integration of the most up-to-date information from various research disciplines relevant to the PNDs; 2) overview of testing approaches for identification; 3) identification of promising new avenues for research; 4) fostering of collaborations among researchers in the field (and stimulation of the involvement of new investigators); 5) coordination of approaches to clinical studies and trials; and 6) assessment of the future role of gene therapy and stem cell research in treatment of the PNDs. The perspectives of parents of affected children wilI be an important component of this conference.

描述（由申请人提供） 小儿神经递质疾病（PND）是最近确定的先天性 影响中枢神经系统（CNS）的代谢错误。 神经递质如多巴胺、去甲肾上腺素、血清素和GABA， 在中枢神经系统活动中起关键作用，包括调节体温和疼痛 阈值，行为和运动功能的控制，神经元兴奋和 抑制、记忆和许多其他过程。PND包括芳香族化合物 L-氨基酸脱羧酶缺乏症（ALADD）、GTP环化水解酶缺乏症 （Segawa病或多巴反应性肌张力障碍），酪氨酸羟化酶缺乏 (THD)和琥珀酸半醛脱氢酶（SSADH）缺乏（或 4-羟丁酸尿症）。虽然被认为是罕见的， 这些疾病的发病率可能要高得多，因为有大量的未确诊的 例这是因为大多数用于识别先天性的筛查测试 代谢错误集中在血液和尿液，而PND通常 只有通过仔细分析脑脊液（CSF）才能发现。仅与 适当的测试可以使PND的真实发生率变得清晰。一些情况 特发性脑病和脑性麻痹的患者被诊断为PND。 早期诊断是至关重要的，因为可能发生不可逆的神经损伤。有 许多PND的可用治疗干预，但这些不能被 没有准确的诊断。此外，未来的遗传咨询 取决于正确的鉴别诊断由于对PND的研究仅在 我们认为，一个教育科学家和普通人讲习班 个人是及时和重要的。与会者将包括代谢 专家，神经科学家，医生，护士和非专业社区成员， 对PND非常感兴趣。我们对拟议会议的目标 包括：（1）整合来自不同领域的最新信息， 与PND相关的研究学科; 2）测试方法概述 3）确定有希望的新研究途径; 4） 促进该领域研究人员之间的合作（并鼓励 新调查员的参与）; 5）协调各种方法， 临床研究和试验;以及6）评估基因的未来作用 治疗和干细胞研究在治疗PND中的作用。等角度 受影响儿童的父母将是这次会议的重要组成部分。