SYMPOSIUM ON HEREDITARY SPASTIC PARAPLEGIA

遗传性痉挛截瘫(HSP)是一组以进行性肢体痉挛无力为特征的疾病。走路会逐渐受损，经常需要坐轮椅，还可能出现膀胱功能障碍和其他神经功能障碍。神经病理学研究显示，中枢神经系统中最长轴突的远端发生变性。据估计，仅在美国就有2,000至20,000人受到HSP的影响。数以千计的人面临遗传这种疾病的风险。HSP的病因在很大程度上还不清楚，也没有具体的治疗方法。热休克蛋白的研究进展迅速。例如，在过去的五年中，我们了解到至少有十种不同的HSP基因类型。六个月前，一种常染色体隐性遗传性过敏性紫杉醇的基因被发现。预计将在未来6个月内确定常染色体显性遗传性过敏性紫斑变性最常见原因的基因。我们建议在密歇根大学校园内举办第一届热休克国际研讨会。研讨会主席，John K.Fink博士(副教授，系)密歇根大学神经病学教授)对热休克蛋白的研究做出了重要贡献。芬克博士与国内外其他HSP研究人员合作，确定了HSP的两个基因座，确定了150多个HSP家系，并发表了这种疾病的临床特征和鉴别诊断。已经成立了一个组织委员会，其中包括过敏性紫杉醇研究的领导者和一名患者代表。本次研讨会有三个主要目标：1)对HSP的临床、遗传和病理方面达成共识，并将这些信息传播给临床医生、HSP研究人员和患者；2)开发HSP研究所需的研究工具和资源，包括标准化的诊断标准、临床和基因分类、功能评估和HSP患者的同质性队列；3)促进研究人员之间的合作。我们将汇聚过敏性紫杉醇临床、遗传学和病理学方面的主要研究人员。我们将通过一系列深入的介绍和讨论，就HSP的各个方面达成共识。每期会议后，各学科写作委员会将起草协商一致的摘要。我们将巩固我们对HSP各个方面的理解，并向医学界和科学界公布本次研讨会的共识。美国、法国和德国的HSP患者组织的代表将参加这次研讨会。他们将与医生和科学家一起，为HSP患者及其家人准备一份通俗易懂的研讨会总结。通过宣传这次研讨会，我们希望引起人们对热休克蛋白的进一步关注，并吸引其他研究人员进入这一领域。尤其需要初级调查人员的参与。这些人将被邀请在海报会议期间提交摘要。通过整合和发布有关过敏性紫杉醇的信息，开发研究工具和共享资源，促进合作，并希望引入新的研究人员进入该领域，这次研讨会将促进我们对这一组疾病的病因和最终治疗的理解

Hereditary Spastic Paraplegia (HSP) is a group of disorders characterized by progressive lower extremity spastic weakness. Walking is progressively impaired, wheelchairs often required, and urinary bladder disturbance and other neurologic deficits may occur. Neuropathologic studies show degeneration at the distal ends of the longest axons in the central nervous system. HSP affects an estimated 2,000 to 20,000 individuals in the United States alone. Many thousands more are at risk of inheriting this disease. The causes of HSP are largely unknown and specific treatments are not available. HSP research is proceeding rapidly. In the past five years, for example, we have learned that there are at least ten different genetic types of HSP. The gene for one form of autosomal recessive HSP was identified six months ago. Identification of the gene for the most common cause of autosomal dominant HSP is expected within the next six months. We propose to hold the first International Symposium for HSP on the campus of the University of Michigan. The Symposium Chair, Dr. John K. Fink, (Associate Professor, Dept. of Neurology, University of Michigan) has made important contributions to HSP research. Working with other HSP investigators in this country and abroad, Dr. Fink has identified two genetic loci for HSP, ascertained more than 150 HSP kindreds, and published clinical features and differential diagnosis of this disorder. An Organizing Committee has been established that includes leaders in HSP research and a patient advocate representative. This Symposium has three major objectives: 1) develop a consensus understanding of clinical, genetic, and pathologic aspects of HSP and disseminate this information to clinicians, HSP investigators, and patients; 2) develop the research tools and resources necessary for HSP research including standardized diagnostic criteria, clinical and genetic classification, functional assessment, and homogeneous cohorts of HSP patients; 3) promote collaborations between investigators. We will bring together leading investigators in clinical, genetic and pathologic aspects of HSP research. We will achieve a consensus of each aspect of HSP through a series of in-depth presentations and discussions. Following each Session, discipline-specific Writing Committees will draft consensus summaries. We will consolidate our understanding of each aspect of HSP and publish the consensus of this Symposium for medical and scientific communities. Representatives of HSP patient organizations in the United States, France, and Germany will participate in this Symposium. Working with physicians and scientists, they will prepare a summary of this Symposium in lay language for HSP patients and their families. By publicizing this Symposium, we hope to 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 hopefully bringing new investigators into the field, this Symposium will advance our understanding of the causes, and ultimately treatments for this group of disorders