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

Publication ,  Journal Article
Burke, JR; Wingfield, MS; Lewis, KE; Roses, AD; Lee, JE; Hulette, C; Pericak-Vance, MA; Vance, JM
Published in: Nat Genet
August 1994

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.

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Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

August 1994

Volume

7

Issue

4

Start / End Page

521 / 524

Location

United States

Related Subject Headings

  • Syndrome
  • Repetitive Sequences, Nucleic Acid
  • Red Nucleus
  • Pedigree
  • Oligodeoxyribonucleotides
  • North Carolina
  • Minisatellite Repeats
  • Male
  • Humans
  • Globus Pallidus
 

Citation

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Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., … Vance, J. M. (1994). The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet, 7(4), 521–524. https://doi.org/10.1038/ng0894-521
Burke, J. R., M. S. Wingfield, K. E. Lewis, A. D. Roses, J. E. Lee, C. Hulette, M. A. Pericak-Vance, and J. M. Vance. “The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.Nat Genet 7, no. 4 (August 1994): 521–24. https://doi.org/10.1038/ng0894-521.
Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521–4.
Burke, J. R., et al. “The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family.Nat Genet, vol. 7, no. 4, Aug. 1994, pp. 521–24. Pubmed, doi:10.1038/ng0894-521.
Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vance JM. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994 Aug;7(4):521–524.

Published In

Nat Genet

DOI

ISSN

1061-4036

Publication Date

August 1994

Volume

7

Issue

4

Start / End Page

521 / 524

Location

United States

Related Subject Headings

  • Syndrome
  • Repetitive Sequences, Nucleic Acid
  • Red Nucleus
  • Pedigree
  • Oligodeoxyribonucleotides
  • North Carolina
  • Minisatellite Repeats
  • Male
  • Humans
  • Globus Pallidus