文摘
摘要目的:探讨种族的表型的影响3型脊髓小脑的共济失调(SCA3)。
背景:各种零星的神经退行性疾病如阿尔茨海默病、帕金森病和肌萎缩性脊髓侧索硬化症,是行之有效的种族做影响疾病表型。然而,种族如何可能导致临床症状和疾病进展的无性生殖的障碍,如3型脊髓小脑的共济失调(SCA3),仍然是研究较少。
设计/方法:我们使用多变量线性和逻辑回归模型在257年molecularly-confirmed SCA3的病人(66白种人,43个非洲裔美国人,和148年亚洲人由131中国人和亚裔美国人17日)探索发病年龄种族的影响(氧化铝),共济失调的严重程度,non-ataxia症状的患病率。我们也使用模型广义估计方程来分析种族共济失调的进展的影响。
结果:我们发现亚洲人明显后的氧化铝,而白种人(β= 4.75,p = 0.000)和非裔美国人(β= 6.64,p = 0.000)调整后的病理CAG重复数字。非裔美国人表现出比白种人更严重的共济失调(β= 3.81,p = 0.004)和亚洲人(β= 4.39,p = 0.001)考虑后病理CAG重复数字和疾病持续时间。然而,没有显著差异在混乱的三个种族之间的进展。另一方面,白种人更频繁的人有抑郁症比非洲裔美国人(β= 1.23,p = 0.040)。
结论:SCA3患者表型变化和不同的疾病进展率在不同的种族,这可能值得临床研究和公共卫生的考虑。这些结果强调种族的角色在无性生殖的,神经退行性疾病。
披露:甘博士没有披露。菲格罗亚博士没有披露。帕尔曼博士没有披露。威尔博士没有披露。戈麦斯博士没有披露。Schmahmann博士已经收到个人赔偿咨询、担任科学顾问委员会说,或其他活动Ataxion /降落的,Biohaven制药和辉瑞。保尔森博士没有披露。Shakkottai博士没有披露。医生应披露毫无关系。Zesiewicz博士已经收到个人赔偿咨询、担任科学顾问委员会说,或其他活动Steminent Biotherapeutics Inc . Zesiewicz博士已经收到Abbive研究支持,生原体,Biohaven Cavion。 Dr. Bushara has nothing to disclose. Dr. Geschwind has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Quest Inc., Advance Medical Inc, Guidepoint Global, Market Plus, Best Doctors, Gerson Lehrman Group, 3MCommunications, Insight Consulting, and Smith & Hennessey LLC. Dr. Geschwind has received research support from Quest Diagnostics. Dr. Xia has nothing to disclose. Dr. Subramony has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Acceleron Pharma. Dr. Subramony has received research support from Acceleron, Reata, Takeda, Horizon, and Biohaven. Dr. Ashizawa has nothing to disclose. Dr. Pulst has received personal compensation in an editorial capacity for Wolters Kluwer (Editor: Neurology Genetics). Dr. Pulst has received royalty, license fees, or contractual rights payments from Cedars-Sinai Medical Center. Dr. Wang has nothing to disclose. Dr. Kuo has nothing to disclose.
