| First Author | Andrew SE | Year | 1993 |
| Journal | Nat Genet | Volume | 4 |
| Issue | 4 | Pages | 398-403 |
| PubMed ID | 8401589 | Mgi Jnum | J:42662 |
| Mgi Id | MGI:1096481 | Doi | 10.1038/ng0893-398 |
| Citation | Andrew SE, et al. (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease [see comments]. Nat Genet 4(4):398-403 |
| abstractText | 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. |
