The hypocretin neurotransmission system in myotonic dystrophy type 1
The hypocretin neurotransmission system in myotonic dystrophy type 1
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DOI：
10.1212/01.wnl.0000296827.20167.98
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发表时间：
2008-01-15
期刊：
影响因子：
9.9
通讯作者：
Thornton, C. A.
中科院分区：
文献类型：
--
作者：
Ciafaloni, E.;Mignot, E.;Thornton, C. A.
背景：强直性肌营养不良1型（DM 1）患者经常有白天过度嗜睡（EDS）的症状。一些DM 1患者表现出睡眠发作性REM，与在发作性睡病中观察到的相似。发作性睡病以下丘脑泌素（hypocretin，Hcrt）神经传递受损为特征，目的：检测1型糖尿病（DM 1）患者脑脊液（CSF）中Hcrt神经传递的异常。通过整夜多导睡眠图（PSG）和多次睡眠潜伏期试验（MPEST）评估睡眠生理学。结果：38例DM 1患者中有17例出现EDS症状，其中11例出现EDS症状，12例出现EDS症状。在接受PSG/MREM的1型DM伴EDS患者中，13例中有7例显示睡眠潜伏期缩短，睡眠发作REM或两者兼而有之。然而，DM 1中的CSF Hcrt水平（平均277 pg/mL，n = 38）与对照组（平均277 pg/mL，n = 33）无差异。此外，剪接的HcrtR 1和HcrtR 2 mRNA的DM1.Conclusions：过度的白天嗜睡和REM睡眠失调的DM 1型强直性肌营养不良症（DM 1）患者经常发生。然而，其病理生理基础与发作性睡病不同，因为DM 1患者没有一致的Hcrt释放或受体剪接缺陷。
Background: Patients with myotonic dystrophy type 1 (DM1) frequently have symptoms of excessive daytime sleepiness (EDS). Some patients with DM1 show sleep-onset REM, similar to that observed in narcolepsy. Narcolepsy is characterized by impaired hypocretin (Hcrt) neurotransmission.Objective: To test for dysregulation of Hcrt neurotransmission in a prospective cohort of patients with DM1.Methods: Hcrt levels in CSF were measured by radioimmunoassay. Sleep physiology was assessed by overnight polysomnography (PSG) and a multiple sleep latency test (MSLT). Splicing of Hcrt receptor 1 and 2 (HcrtR1 and HcrtR2) mRNA was examined in postmortem samples of temporal cortex.Results: Seventeen of 38 patients with DM1 reported symptoms of EDS. Among patients with DM1 with EDS who underwent PSG/MSLT, 7 of 13 showed reduced sleep latency, sleep-onset REM, or both. However, CSF Hcrt levels in DM1 (mean 277 pg/mL, n = 38) were not different from controls (mean 277 pg/mL, n = 33). Also, splicing of HcrtR1 and HcrtR2 mRNA in patients with DM1 was similar to controls.Conclusions: Excessive daytime sleepiness and dysregulation of REM sleep occur frequently in patients with myotonic dystrophy type 1 (DM1). However, the pathophysiologic basis is distinct from narcolepsy, as patients with DM1 do not have a consistent defect of Hcrt release or receptor splicing.