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- W1538862930 abstract "There is emerging evidence that clinical and neuro-pathological manifestations of Huntington's disease (HD) may occur in individuals with intermediate length cytosine-adenine-guanine (CAG) repeats (27-35 CAG repeats) in the Huntingtin (HTT) gene. We aim to further define the clinical characteristics of individuals who possess CAG repeat lengths in this range.Data from the Cooperative Huntington's Observational Research Trial (COHORT) were analyzed. Participants were categorized according to the number of CAG repeats into normal (≤26), intermediate (27-35) and HD (≥36) groups. The motor, cognitive and behavioral scores on the Unified Huntington's Disease Rating Scale (UHDRS) were compared between the intermediate and normal groups.Of 1985 individuals affected by HD or with a family history of HD who were genotyped, 50 (2.5%) had their larger CAG repeat in the intermediate range. There were statistically significant differences in scores of some motor, cognitive, and behavioral domains of UHDRS at baseline between normal and intermediate length CAG repeats. Furthermore, a significantly greater number of subjects with CAG repeats in the intermediate range reported at least one suicide attempt compared to the normal group.Our findings of motor, cognitive and behavioral abnormalities in individuals with intermediate CAG repeats suggest the presence of subtle, but relevant, disease manifestations in patients with intermediate CAG repeats. These results have important implications for the pathogenesis of the disease and genetic counseling." @default.
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- W1538862930 date "2012-01-01" @default.
- W1538862930 modified "2023-10-18" @default.
- W1538862930 title "Intermediate CAG Repeats in Huntington's Disease: Analysis of COHORT." @default.
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- W1538862930 doi "https://doi.org/10.7916/d8ff3r2p" @default.
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