血清和脑叶酸在唐氏综合征回归障碍中是正常的
Jonathan D Santoro1,2, Mackenzie Silverman3, Lilia Kazerooni3
1Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA, USA. jdsantoro@chla.usc.edu.
唐氏综合征回归障碍 (DSRD) 与叶酸缺乏没有联系. 研究发现DSRD患者的血清,红细胞和脑脊液中的叶酸水平正常,排除了叶酸代谢问题.
科学领域:
- 神经科学是一个神经科学.
- 生物化学 生物化学
- 遗传学 是一个遗传学.
背景情况:
- 唐氏综合征回归障碍 (DSRD) 涉及唐氏综合征 (DS) 患者的神经精神病学衰退.
- DSRD的症状包括脑病变,白内障和自闭症特征,通常在生命的第二或第三十年出现.
- 研究叶酸的运输和新陈代谢对于理解DSRD病变的产生至关重要.
研究的目的:
- 确定叶酸水平的异常是否与唐氏综合征回归障碍 (DSRD) 有关.
- 探索血清,红细胞 (RBC) 和脑脊液 (CSF) 在DSRD中的作用.
主要方法:
- 一项前性观察队列研究评估了可能或可能患有DSRD的个体.
- 进行了标准化的神经诊断测试,包括腰部穿刺.
- 血清叶酸,红细胞叶酸和脑液5-MTHF水平使用高性能液态染色学进行了分析.
主要成果:
- 所有测量的叶酸水平 (血清,红细胞,脑液5-MTHF) 在DSRD患者的正常范围内.
- 虽然单变量分析显示了CSF5-MTHF与发育回归或CSF异常之间的关联,但在校正后,这些并不显著.
- 没有证据表明全身或脑叶酸缺乏导致DSRD.
结论:
- 在DSRD患者中,血清,红血细胞和CSF叶酸度是正常的.
- 系统性和脑叶酸缺乏不太可能导致DSRD的发病.
- 对于没有特定临床指标的DSRD病例,不建议对脑叶酸代谢障碍进行进一步测试.
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