FIRST SCIENTIFIC WORKSHOP ON HALLERVORDEN-SPATZ SYNDROME

点击翻译按钮获取中文摘要

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.