The haw river syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family

James R. Burke, Martha S. Wingfield, Karen E. Lewis, Allen D. Roses, James E. Lee, Christine Hulette, Margaret A. Pericak-Vance, Jeffery M. Vance

Research output: Contribution to journalArticlepeer-review

185 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)521-524
Number of pages4
JournalNature genetics
Issue number4
StatePublished - Aug 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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