Edited by: Karen Young Kreeger
J.R. Burke, M.S. Wingfield, K.E. Lewis, A.D. Roses, J.E. Lee, C. Hulette, M.A. Pericak-Vance, J.M. Vance, "The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family," Nature Genetics, 7:521-4, 1994. (Cited in nearly 60 publications as of June 1996)
Comments by James R. Burke and Jeffery M. Vance, Duke University Medical Center
Many discoveries in the study of human genetic diseases come from reproductively isolated populations. Haw River syndrome, a neurodegenerative disorder, is one such example. The disease has affected five generations of an African American family living near the Haw River, a rural part of central North Carolina.
A SMALL WORLD: Haw River syndrome in North Carolina and DRPLA in Japan are remarkably similar, says James Burke. The disorder is characterized by a mutation on chromosome 12 that causes neuronal loss in several parts of the brain. "Haw River syndrome is a slowly ...
