Research Update (1998)

by Dr. Louis Ptacek, M.D. Associate Professor Dept. of Neurology, Human Genetics University of Utah Salt Lake City, Utah

A neurologist at Children’s Hospital in Boston, while working a couple of years ago with Bruce Korf, saw a number of patients from the family that Dr. Mikati originally reported. More recently, this neurologist has come in contact with additional patients in the family, and is attempting to characterize their phenotype, as well as to collect blood for DNA extraction. This neurologist is planning to do a postdoctoral fellowship in my laboratory beginning sometime in the next year. Because of my interest in episodic neurologic diseases, she has proposed bringing these resources to Utah. She will study the translocation break point in the Mikati family with the hope of identifying the gene that causes the phenotype in those patients. We already have DNA on a number of these family members and will continue to collect more blood for DNA extraction, as well as for high resolution karyotypic studies. Because of the hereditary nature of the disorder in this family, I feel that it is particularly important to study this family. In addition, however, we are still planning to collect DNA on patients with sporadic cases of alternating hemiplegia. We are in the process of working out some of the details, so that once we begin this can be done efficiently, without overwhelming the clinical coordinators working in our Core DNA Lab. I will keep you posted regarding our plans for collection, and hope to get this started in the near future. (Note: In 1992 Neurology journal, Dr. Mikati reports familial occurrence and apparent autosomal dorminant inheritance of alternating hemiplegia of childhood. Father, brother, paternal uncle, and paternal grandmother had similar histories of alternating hemiplegia.)

Re-printed from the IFAHC newsletter, Vol. 3, Issue 5.

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