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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: S E
authors.initials: SE
authors.lastname: Andrew
authors.forename: Y P
authors.initials: YP
authors.lastname: Goldberg
authors.forename: B
authors.initials: B
authors.lastname: Kremer
authors.forename: H
authors.initials: H
authors.lastname: Telenius
authors.forename: J
authors.initials: J
authors.lastname: Theilmann
authors.forename: S
authors.initials: S
authors.lastname: Adam
authors.forename: E
authors.initials: E
authors.lastname: Starr
authors.forename: F
authors.initials: F
authors.lastname: Squitieri
authors.forename: B
authors.initials: B
authors.lastname: Lin
authors.forename: M A
authors.initials: MA
authors.lastname: Kalchman
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009679:Nuclear Family; D009838:Oligodeoxyribonucleotides; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D009838:Oligodeoxyribonucleotides; D004247:DNA