The objective of this workshop was to examine the potential clinical impact of recent developments in DNA technology on neurogenetic diseases, with particular emphasis on Huntington's disease (HD). Ira Shoulson, MD, introduced the workshop by reviewing the clinical characteristics of HD, which include movement disorder (usually chorea), dementia, and psychiatric disturbances. He empha
For editorial comment see p 20.
sized that the diagnosis of HD is based strongly on its hereditary features, which are as follows: autosomal-dominant pattern, complete penetrance, and negligible mutation rate. Because the onset of HD is usually delayed until the third to fifth decades, most persons have children before realizing that they have inherited the disease. There has been no reliable method for a prenatal or presymptomatic diagnosis of HD, and there is no effective therapy.
A number of investigations that used classic polymorphic antigen and enzyme markers to identify a linked marker to the HD
Kurlan R. Clinical Impact of Recombinant DNA Research on Neurogenetic DiseasesReport of Mary Jennifer Selznick Workshop, Organized by the Hereditary Disease Foundation. Arch Neurol. 1985;42(1):82–84. doi:10.1001/archneur.1985.04060010092024