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NEWS & EVENTS

Workshop on Glucocerebrosidase and the Synucleinopathies

2004
NIH Fogarty Center, Bethesda, MD

Several new studies have reported evidence for an association between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies, clinically diverse neurodegenerative disorders characterized by fibrillar α-synuclein inclusions in neuronal and/or glial cell populations. Recently, several groups have reported findings that show an increased frequency of Gaucher mutations in patients with parkinsonism. This conference brought together basic researchers, pathologists, and clinicians from diverse backgrounds studying synucleinopathies and/or Gaucher disease to explore the etiology and significance of this association. The format included presentations from invited speakers and roundtable discussions. Agenda items included talks on clinical, natural history, animal, pathology, cell biology, protein, and molecular studies as well as discussions of strategies for future research and therapeutic advances. A consensus statement will be drafted for publication. Goals included (1) understanding the contribution of mutant glucocerebrosidase to the development of synucleinopathies, (2) better establishing the frequency of this association in different clinical cohorts and determining the relative risk of developing parkinsonism in Gaucher patients and heterozygotes, and (3) raising awareness of how heterozygosity for a rare disease may be a risk factor for common disorders.

Contact:
Jean Jenkins, Ph.D., R.N. (301) 496-4601

Co-funding Institute(s):
National Human Genome Research Institute

From the National Center for Advancing Translational Sciences

From the National Institutes of Health

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