International Symposium for Hereditary Spastic Paraplegia

描述（由申请人提供）：遗传性痉挛性截瘫（HSP）是一组以进行性下肢痉挛性无力为特征的运动神经元疾病。经常需要轮椅，并可能出现其他神经缺陷。仅在美国，估计就有2万人患有HSP。HSP没有特殊的治疗方法。2000年5月25-27日，我们在密歇根大学举办了第一届HSP国际研讨会（ISHSP）。来自世界各地的50多名研究人员和近200名临床医生、科学家、HSP支持小组的领导人和患者参与了研究。这次活动促进了HSP的研究合作，并刺激了美国（痉挛性截瘫基金会）和欧洲HSP支持组织的形成。HSP的研究正在以惊人的速度进行。在第一个issp的时候，热休克蛋白的分子基础在很大程度上是未知的。在此期间，已经发现了23种额外的热休克蛋白遗传形式，并确定了12种额外的热休克蛋白基因。这导致了基于实验室的热休克蛋白诊断和热休克蛋白分子病理生理学的重要见解。我们现在知道热休克可由轴突运输改变、微管加工异常和线粒体紊乱引起。在过去的24个月里，HSP体内和体外模型的发展促进了对HSP分子发病机制的研究；并允许高通量筛选，以确定潜在的治疗化合物。重要的是，将领先的热休克蛋白研究人员聚集在一起，回顾热休克蛋白研究的主要进展；并促进新的研究倡议和合作。研讨会的目标是1)发展和发表对热休克的临床、遗传、病理和分子方面的共识；2)利用最新的热休克蛋白基因发现，对热休克蛋白分子病理生理和治疗产生新的见解；3)开发HSP研究所需的研究工具和资源，包括标准化诊断标准、表型-基因型数据库、临床和遗传分类、功能评估和疾病替代标志物；4)促进研究人员之间的合作，包括共享研究资源。通过这次研讨会的宣传，我们将进一步引起人们对HSP的关注，并吸引其他研究者进入这一领域。特别需要初级调查人员的参与。这些人将被邀请在海报会议上发表摘要。通过整合和发布有关热休克的信息，开发研究工具和共享资源，促进合作，并将新的研究人员引入该领域，本次研讨会将促进我们对热休克的病因和最终治疗方法的理解。

DESCRIPTION (provided by applicant): Hereditary Spastic Paraplegia (HSP) is a group of motor neuron disorders characterized by progressive lower extremity spastic weakness. Wheelchairs often required and other neurologic deficits may occur. HSP affects an estimated 20,000 individuals in the United States alone. There is no specific treatment for HSP. In May 25-27, 2000, we held the First International Symposium for HSP (ISHSP) at the Univ. Michigan. More than 50 investigators from around the world and nearly 200 clinicians, scientists, leaders of HSP support groups, and patients participated. This event served to catalyze HSP research collaborations and stimulate formation of HSP support organizations in the U.S. (Spastic Paraplegia Foundation) and Europe. HSP research is proceeding at a tremendous pace. At the time of the First ISHSP, HSP's molecular basis was largely unknown. In the interim, 23 additional genetic forms of HSP have been discovered and genes for 12 additional types of HSP have been identified. This has led to laboratory-based HSP diagnosis and important insights into HSP's molecular pathophysiology. We now know that HSP can result from altered axonal transport, and aberrant microtubule processing, and mitochondrial disturbance. Development of in vivo and in vitro models of HSP in the past 24 months facilitate studies of HSP's molecular pathogenesis; and permit high- throughput screening to identify potential therapeutic compounds. It is important to bring leading HSP investigators together to review major developments in HSP research; and to catalyze new research initiatives and collaborations. The Symposium objectives are to 1) develop and publish consensus understanding of clinical, genetic, pathologic, and molecular aspects of HSP; 2) utilize recent HSP gene discoveries to generate fresh insights into HSP molecular pathophysiology and treatment; 3) develop the research tools and resources necessary for HSP research including standardized diagnostic criteria, phenotype-genotype database, clinical and genetic classification, functional assessment, and surrogate markers of disease; 4) promote collaborations between investigators including sharing of research resources. By publicizing this Symposium, we will draw further attention to HSP and bring other investigators into this field. Participation of junior investigators is particularly sought. Such individuals will be invited to present abstracts during poster sessions. By consolidating and publishing information about HSP, developing research tools and shared resources, promoting collaborations, and bringing new investigators into the field, this Symposium will advance our understanding of the causes, and ultimately treatments for HSP.