The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.

Journal Article (Journal Article)

Haw River Syndrome (HRS) is a dominant neurodegenerative disease that has affected five generations of an African-American family in rural North Carolina. The disorder represents a unique spectrum of multiple system degenerations resembling Huntington's disease, spinocerebellar atrophy and dentatorubropallidoluysian atrophy (DRPLA), a neurodegenerative disease that has been primarily reported in Japan. Recently, DRPLA 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 demonstrates that, despite their distinct cultural origins and clinical and pathological differences, HRS is caused by the same expanded CTG-B37 repeat as DRPLA.

Full Text

Duke Authors

Cited Authors

  • Burke, JR; Wingfield, MS; Lewis, KE; Roses, AD; Lee, JE; Hulette, C; Pericak-Vance, MA; Vance, JM

Published Date

  • August 1994

Published In

Volume / Issue

  • 7 / 4

Start / End Page

  • 521 - 524

PubMed ID

  • 7951323

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng0894-521


  • eng

Conference Location

  • United States