Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994 Nov;31(11):872-4.
doi: 10.1136/jmg.31.11.872.

Trinucleotide repeat length and progression of illness in Huntington's disease

K Kieburtz  1 , M MacDonald, C Shih, A Feigin, K Steinberg, K Bordwell, C Zimmerman, J Srinidhi, J Sotack, J Gusella, et al.
Affiliations

Trinucleotide repeat length and progression of illness in Huntington's disease

K Kieburtz et al. J Med Genet. 1994 Nov.

Abstract

The genetic defect causing Huntington's disease (HD) has been identified as an unstable expansion of a trinucleotide (CAG) repeat sequence within the coding region of the IT15 gene on chromosome 4. In 50 patients with manifest HD who were evaluated prospectively and uniformly, we examined the relationship between the extent of the DNA expansion and the rate of illness progression. Although the length of CAG repeats showed a strong inverse correlation with the age at onset of HD, there was no such relationship between the number of CAG repeats and the rate of clinical decline. These findings suggest that the CAG repeat length may influence or trigger the onset of HD, but other genetic, neurobiological, or environmental factors contribute to the progression of illness and the underlying pace of neuronal degeneration.

PubMed Disclaimer

References

    1. Nat Genet. 1993 Aug;4(4):387-92 - PubMed
    1. Nat Genet. 1993 Aug;4(4):393-7 - PubMed
    1. Nat Genet. 1993 Aug;4(4):398-403 - PubMed
    1. Lancet. 1993 Oct 16;342(8877):954-8 - PubMed
    1. Hum Mol Genet. 1993 Oct;2(10):1547-9 - PubMed

Publication types