FIRST SCIENTIFIC WORKSHOP ON HALLERVORDEN-SPATZ SYNDROME

Hallervorden-Spatz综合征（HSS）是一种罕见的常染色体隐性遗传性神经退行性疾病。 表型包括肌张力障碍、痴呆和视网膜色素变性，基底节和弥漫性轴索神经节中有铁蓄积。迄今为止，对HSS的研究主要是描述性的，在了解这种疾病的基础生物学方面几乎没有取得进展。 最近HSS基因的定位为临床诊断和产前检测提供了便利，HSS基因的鉴定将为这种致命疾病的研究开辟新的途径。此时举办HSS研讨会的主要理由是需要刺激新的研究。 研讨会将于2000年5月19日和20日在美国国立卫生研究院举行。 参与者来自神经病学，神经病理学，神经放射学，神经科学，视网膜生理学，铁代谢和遗传学以及Hallervorden-Spatz综合征协会（HSSA），一个国际家庭支持组织。 挑选个人参加者的重点是将不同的青年科学家和知名科学家聚集在一起。 本次研讨会的总体目标是确定HSS研究的优先事项，确定推进这一领域研究所需的资源，并促进研究人员之间的合作。 研讨会议程旨在实现这些目标。 涵盖的主题包括1）Hallervorden-Spatz综合征的临床描述，2）HSS中的色素性视网膜病变，3）HSS的病理学，4）HSS的遗传学，5）脑铁转运和代谢，6）基底神经节-电路，发育和铁在基底神经节功能中的作用，7）HSS和神经退行性综合征与色素性视网膜病变的重叠-发病机制的线索？，8)HSS发病机制的假说; 9）治疗方法。科学研讨会将与HSSA家庭成员第一次会议部分重叠。 这些会议的临近性向受HSS影响的家庭表明，这一领域的研究是优先事项，并使关键人员能够参加这两次会议。

Hallervorden-Spatz syndrome (HSS) is a rare autosomal recessive neurodegenerative disorder of childhood. The phenotype includes dystonia, dementia and retinitis pigmentosa, with iron accumulation in the basal ganglia and diffuse axonal swellings. To date, research on HSS has been primarily descriptive, with little progress made toward understanding the basic biology of this disease. The recent mapping of the gene for HSS has facilitated clinical diagnosis and enabled prenatal detection, and identification of the HSS gene will open new avenues for research on this fatal disorder. The primary justification for a workshop on HSS at this time is the need to stimulate new research. The workshop will take place on May 19 and 20, 2000 and will be held at the NIH. Participants are from neurology, neuropathology, neuroradiology, neuroscience, retinal physiology, iron metabolism, and genetics and from the Hallervorden-Spatz Syndrome Association (HSSA), an international family support organization. Individual participants were selected with an emphasis on bringing together a diverse group of young and established scientists. The overall objectives of this workshop are to define HSS research priorities, identify resources that are needed to advance research in this area, and foster collaborations among researchers. The workshop agenda is designed to meet these objectives. Topics to be covered include 1) clinical delineation of Hallervorden-Spatz syndrome, 2) pigmentary retinopathy in HSS, 3) pathology of HSS, 4) genetics of HSS, 5) brain iron transport and metabolism, 6) the basal ganglia - circuitry, development, and the role of iron in basal ganglia function, 7) overlap of HSS and neurodegenerative syndromes with pigmentary retinopathy - clues to pathogenesis?, 8) hypotheses of HSS pathogenesis, and 9) therapeutic approaches. The scientific workshop will overlap partially with the first meeting of family members of the HSSA. The proximity of these meetings demonstrates to families affected by HSS that research in this area is a priority and enables participation in both meetings by key personnel.