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亨廷顿病表型和进程的种族差异。

Racial Differences in the Presentation and Progression of Huntington's Disease.

机构信息

Division of Cognitive and Behavioral Neurology, Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Department of Neuroscience, Vanderbilt University, Nashville, Tennessee, USA.

出版信息

Mov Disord. 2023 Oct;38(10):1945-1949. doi: 10.1002/mds.29536. Epub 2023 Aug 10.

Abstract

BACKGROUND

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that predominantly impacts a Caucasian population, but few efforts have explored racial differences in presentation and progression.

OBJECTIVE

The aim was to assess the presentation and progression of HD across race groups using the Enroll-HD longitudinal observational study.

METHODS

We applied propensity score matching for cytosine-adenine-guanine age product score, and age, to identify White, Hispanic, Asian, and Black participants from the Enroll-HD database. We compared clinical presentations at baseline, and progression over time, using White participants as a control cohort.

RESULTS

Black participants were more severe at baseline across all clinical measures. No significant differences in progression were observed between race groups.

CONCLUSIONS

We consider the factors driving clinical differences at baseline for Black participants. Our data emphasize the necessary improvement in underrepresented minority recruitment for studies of rare diseases. © 2023 International Parkinson and Movement Disorder Society.

摘要

背景

亨廷顿病(HD)是一种常染色体显性神经退行性疾病,主要影响白种人群,但很少有研究探讨其在表现和进展方面的种族差异。

目的

本研究旨在利用 Enroll-HD 纵向观察性研究,评估不同种族群体中 HD 的表现和进展。

方法

我们应用胞嘧啶-腺嘌呤-鸟嘌呤年龄乘积评分和年龄的倾向评分匹配,从 Enroll-HD 数据库中确定白人、西班牙裔、亚洲人和黑人参与者。我们将基线时的临床表现和随时间的进展与白人参与者作为对照队列进行比较。

结果

黑人参与者在所有临床指标上基线时的严重程度更高。种族群体之间没有观察到进展的显著差异。

结论

我们考虑了导致黑人参与者基线时临床差异的因素。我们的数据强调了在罕见病研究中增加代表性不足的少数族裔招募的必要性。© 2023 国际帕金森病和运动障碍协会。

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