Huntington’s disease Clinical correlates of disability and progression
作者： N Mahant , EA McCusker , K Byth , S Graham , Huntington Study Group
DOI: 10.1212/01.WNL.0000086373.32347.16
关键词:
摘要: Objective: To define the phenotypic variation in a large population of patients with Huntington disease (HD) and to identity clinical features that predict disability rate progression. Methods: The authors analyzed data on 1,026 patients, followed for median 2.7 years, using mixed effects model. factors studied included age at onset, major feature severity motor cognitive impairment, level disability. Results: mean onset was 41.5 (range 8 83) were enrolled all stages disease. Younger associated more dystonia, less chorea, faster motor, cognitive, functional progression not related or sex affected parent. Disability correlated score (excluding chorea dystonia) symbol-digit modalities test. Weight loss severe chorea. Conclusions: HD significantly rapid younger onset. Therefore, CAG repeat length may be an important determinant only but also Chorea weight loss, dystonia determinants
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