在alkaptonuria中增加帕金森病的患病率
Lakshminarayan Ranganath1,2, Milad Khedr1, Anna M Milan1
1Department of Clinical Biochemistry and Metabolic Medicine Royal Liverpool University Hospital Liverpool UK.
JIMD reports
|July 5, 2023
概括
阿尔卡普托努里亚 (AKU) 患者的帕金森病 (PD) 患病率显著更高,可能是由于同源酸暴露. 尼提西诺治疗可能通过影响多巴胺生产,揭露易受 AKU 患者的 PD.
科学领域:
- 神经科学是一个神经科学.
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 遗传学 是一个
背景情况:
- 阿尔卡普顿尿 (AKU) 是一种罕见的遗传代谢障碍.
- 帕金森病 (PD) 是一种神经退行性疾病,影响产生多巴胺的神经元.
研究的目的:
- 为了调查帕金森病 (PD) 在阿尔卡普托努里亚 (AKU) 患者中的患病率.
- 探索AKU,其治疗和PD发展之间的潜在联系.
主要方法:
- 在英国国家阿尔卡普顿症中心 (NAC) 对88名阿尔卡普顿症患者的回顾性分析.
- 包括一个额外的荷兰AKU患者病例.
- 通过Pubmed搜索AKU和PD同时发生的文献综述.
- 在AKU和一般人群中,PD患病率的统计比较.
主要成果:
- 在NAC的88名AKU患者中,有4人同时患有PD.
- 两名AKU患者在尼蒂西诺 (NIT) 治疗前发展了PD,两名在NIT期间.
- 在文献中确定了5名额外的AKU患者与PD (没有NIT使用).
- 在AKU队列中,PD患病率几乎是非AKU人群的20倍 (p < 0.001).
结论:
- 终身暴露于氧化还原活性同源酸 (HGA) 可能会增加AKU患者的PD风险.
- 尼提西治疗诱导的铁血症可能通过抑制大脑氨酸氧酶来揭露敏感个体的PD.
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