The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

S. E. Andrew; Y. P. Goldberg; B. Kremer; H. Telenius; J. Theilmann; S. Adam; E. Starr; F. Squitieri; B. Lin; M. A. Kalchman; R. K. Graham; M. R. Hayden

doi:10.1038/ng0893-398

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

S. E. Andrew, Y. P. Goldberg, B. Kremer, H. Telenius, J. Theilmann, S. Adam, E. Starr, F. Squitieri, B. Lin, M. A. Kalchman, R. K. Graham, M. R. Hayden

IRCCS Casa Sollievo della Sofferenza

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Abstract

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10^-7) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p <0.001) which was not apparent for affected parent-child pairs.

Original language	English
Pages (from-to)	398-403
Number of pages	6
Journal	Nature Genetics
Volume	4
Issue number	4
DOIs	https://doi.org/10.1038/ng0893-398
Publication status	Published - 1993

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease",

abstract = "Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10-7) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p <0.001) which was not apparent for affected parent-child pairs.",

author = "Andrew, {S. E.} and Goldberg, {Y. P.} and B. Kremer and H. Telenius and J. Theilmann and S. Adam and E. Starr and F. Squitieri and B. Lin and Kalchman, {M. A.} and Graham, {R. K.} and Hayden, {M. R.}",

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doi = "10.1038/ng0893-398",

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T1 - The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

AU - Andrew, S. E.

AU - Goldberg, Y. P.

AU - Kremer, B.

AU - Telenius, H.

AU - Theilmann, J.

AU - Adam, S.

AU - Starr, E.

AU - Squitieri, F.

AU - Lin, B.

AU - Kalchman, M. A.

AU - Graham, R. K.

AU - Hayden, M. R.

PY - 1993

Y1 - 1993

N2 - Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10-7) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p <0.001) which was not apparent for affected parent-child pairs.

AB - Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10-7) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p <0.001) which was not apparent for affected parent-child pairs.

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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

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