Drs J.T. Den Dunnen and S. Antonarakis are now updating the Antonarakis et al 1998 nomenclature article to include more complex mutations. These new proposed suggestions should stimulate much discussion once published. Central databases- GDB has now redefined its role in its move to Toronto and has expanded a wish to move with HUGO MDI to set up a global system. The others only have links. As you know, the next MDI meeting will be held in San Francisco Oct. 19th.
Registration is still open and posters are still able to be presented.
If you wish to present a poster, please let me know immediatley, do not show up wisthout having informed me first, as I need to hire the poster boards and our funds are limited. The Preliminary Program and other details are included below. No effective therapies for X-ALD are available. Clinical manifestations range from the extremely progressive childhood cerebral form which leads to severe disability and death before ten years of age, to slowly progressive less severe adult forms that involve mainly the spinal cord, and occasionally to milder forms that are compatible with survival to old age. This extreme phenotypic variability in X-ALD can not be explained by mutations in the defective gene, identical mutations are associated with all clinical phenotypes.