http://www.nih.gov/news/pr/apr2003/nhgri-28.htm
National Human Genome Research Institute, National Institutes of Health
Scientists at the National Human Genome Research Institute (NHGRI) and at the National Institute of Neurological Disorders and Stroke (NINDS) have identified the gene responsible for two related, inherited neurological disorders, and have, for the first time, directly implicated this gene and its enzyme product in a human genetic disease.