晚期睡眠阶段综合征:遗传学和衰老的作用
Rosalia Silvestri1, Biancamaria Guarnieri2
1Sleep Medicine Center, Department of Clinical and Experimental Medicine, AOU G. Martino, Messina, Italy.
Handbook of clinical neurology
|January 26, 2025
概括
家庭高级睡眠阶段 (FASP) 是一种罕见的影响时型的遗传疾病,通常与其他睡眠问题一起发现. 昼夜钟基因的突变与FASP有关,影响睡眠和清醒时间.
科学领域:
- 睡眠医学 睡眠医学
- 时间生物学 时间生物学
- 遗传学 是一个遗传学.
背景情况:
- 先进的睡眠阶段 (ASP) 和先进的睡眠-觉醒阶段障碍 (ASWPD) 涉及早期的时间型,通常是家族的 (FASP).
- FASP经常被偶然诊断,通常与阻塞性睡眠呼吸暂停综合征 (OSAS) 一起诊断.
- 早晨醒来影响近4%的老年人,无论伴随疾病.
研究的目的:
- 审查高级睡眠阶段障碍的患病率,遗传基础和临床关联.
- 探索昼夜节律变化与衰老,认知障碍和神经退行性疾病之间的关系.
主要方法:
- 关于高级睡眠阶段 (ASP),家族高级睡眠阶段 (FASP) 和高级睡眠觉醒阶段障碍 (ASWPD) 的研究文献综述.
- 分析与FASP相关的昼夜钟基因中的遗传突变.
- 检查与年龄相关的昼夜节律变化及其对神经退行性疾病的影响.
主要成果:
- 估计FASP的患病率在0.21%和0.5%之间,与PER2,CK1和DEC2.2等基因的自体突变相关.
- ASWPD影响了大约1%的中年人群,女性由于昼夜周期较短而可能更容易受到影响.
- 与年龄相关的昼夜干扰在神经退行性疾病中被放大,影响SCN和光响应.
结论:
- FASP是一种受遗传影响的时代生物学疾病,具有显著的,尽管经常被忽视的流行率.
- 在衰老和神经退行中循环节律失调具有复杂的,有时相互矛盾的临床影响.
- 需要进一步的研究来澄清ASWPD在认知衰退和痴呆症中的作用.
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