THE HAW-RIVER-SYNDROME - DENTATORUBROPALLIDOLUYSIAN ATROPHY (DRPLA) IN AN AFRICAN-AMERICAN FAMILY

Haw River Syndrome (HRS) is a dominant neurodegenerative disease that has affected five generations of an African-American family in rural N orth Carolina. The disorder represents a unique spectrum of multiple s ystem degenerations resembling Huntington's disease, spinocerebellar a trophy and dentatorubropallidoluysian atrophy (DRPLA), a neurodegenera tive disease that has been primarily reported in Japan. Recently, DRPL A has been shown to be due to an expanded trinucleotide repeat located on chromosome 12pter-p12. We have genotyped this family and found HRS to be tightly linked to the DRPLA region. Further examination demonst rates that, despite their distinct cultural origins and clinical and p athological differences, HRS is caused by the same expanded CTG-B37 re peat as DRPLA.