Nature Genetics
7, 521 - 524 (1994)
doi:10.1038/ng0894-521
The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African−American familyJames R. Burke1, 5, Martha S. Wingfield4, Karen E. Lewis1, Allen D. Roses1, James E. Lee2, Christine Hulette3, Margaret A. Pericak-Vance1
& Jeffery M. Vance1
1Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA
2Division of Neurology, Department of Psychiatry, Duke University Medical Center, Durham, North Carolina 27710, USA
3Division of Neurology, Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
4John Umstead State Hospital, Butner, North Carolina, USA and the Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
5Correspondence should be addressed to J.R.B. 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 MRS to be tightly linked to the DRPLA region. Further examination demonstrates that, despite their distinct cultural origins and clinical and pathological differences, MRS is caused by the same expanded CTG−B37 repeat as DRPLA.
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