Burke J R, Wingfield M S, Lewis K E, Roses A D, Lee J E, Hulette C, Pericak-Vance M A, Vance J M
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
Nat Genet. 1994 Aug;7(4):521-4. doi: 10.1038/ng0894-521.
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.
霍河综合征（HRS）是一种显性神经退行性疾病，已影响了北卡罗来纳州农村地区一个非裔美国家庭的五代人。这种疾病代表了多种系统退化的独特谱系，类似于亨廷顿舞蹈病、脊髓小脑萎缩症和齿状核红核苍白球路易体萎缩症（DRPLA），后者是一种主要在日本报道过的神经退行性疾病。最近研究表明，DRPLA是由位于12号染色体短臂末端 - p12区域的三核苷酸重复序列扩增所致。我们对这个家族进行了基因分型，发现HRS与DRPLA区域紧密连锁。进一步检查表明，尽管HRS和DRPLA有着不同的文化起源以及临床和病理差异，但它们都是由相同的CTG - B37重复序列扩增引起的。
