大脑和下丘脑结构的变化与遗传前性痴呆症患者的睡眠功能障碍的关联
P Tristin Best1, John C Van Swieten1, Lize Corrine Jiskoot1
1From the Integrated Program in Neuroscience (P.T.B.), McGill, Montréal, Canada; Department of Neurology (J.C.V.S., H.S., L.C.J.), Erasmus Medical Centre, Rotterdam, Netherlands; Department of Neurology (F.M.), Donostia Universitary Hospital, San Sebastián, Spain; Institut D'Investigacións Biomèdiques August Pi I Sunyer (R.S.-V.), University of Barcelona, Spain; Faculté de Médecine (R.L.), Université Laval, Québec City, Canada; Department of Neurobiology (C.G.), Karolinska Institutet, Solna, Sweden; Sunnybrook Research Institute (M.M.), Toronto, Canada; Tanz Centre for Research in Neurodegenerative Diseases (C.T.), University of Toronto, Canada; Department of Clinical Neurosciences (J.B.R.), University of Cambridge, United Kingdom; Department of Clinical and Experimental Sciences (B.B.), University of Brescia, Italy; Department of Clinical Neurological Sciences (E.F.), University of Western Ontario, London, Canada; Hertie-Institute for Clinical Brain Research and Center of Neurology (M.S.), University of Tübingen, Germany; Neurology (D.G.), University of Milan, Italy; Department of Neurosciences (R.V.), KU Leuven, Belgium; Faculty of Medicine (A.M.), University of Lisbon, Portugal; Nuffield Department of Clinical Neurosciences (C.B.), University of Oxford, United Kingdom; Wolfson Molecular Imaging Centre (A.G.), University of Manchester, United Kingdom; Institut du Cerveau-ICM (I.L.B.), Hôpital Pitié-Salpêtrière, Paris, France; 31Fondazione IRCCS (P.T.), Istituto Neurologico Carlo Besta, Milan, Italy; Faculty of Medicine (I.S.), University of Coimbra, Portugal; Department of Neurology (F.P.), Université Lille, France; Department of Neurology (J.L.), Ludwig-Maximilians Universität München, Munich, Germany; Department of Neurology (M.O.), University of Ulm, Germany; Department of Neurofarba (S.S.), University of Florence, Italy; Department of Neurodegenerative Disease (A.B., D.M.C., L.L.R., M.B., J.D.R.), University College London, United Kingdom; and Department of Psychiatry (G.A.D., M.C., S.D.), McGill University, Montréal, Canada.
在遗传性前性痴呆症 (FTD) 中,睡眠功能障碍与下丘脑缩有关. 这种缩,特别是在MAPT基因载体中,与睡眠障碍相关,这表明这些症状的神经基础.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 睡眠医学 睡眠医学
背景情况:
- 睡眠功能障碍在神经退行性疾病中普遍存在,例如遗传前性痴呆症 (FTD).
- 在FTD中睡眠障碍背后的特定大脑区域和机制尚不清楚.
- 下丘脑在睡眠调节中起着至关重要的作用,可能与FTD相关的睡眠问题有关.
研究的目的:
- 在遗传FTD的个体中研究下丘脑的结构变化.
- 为了确定这些下丘脑变化是否与整个寿命的睡眠功能障碍有关.
- 探索遗传变异 (MAPT,GRN,C9orf72) 与观察到的结构和睡眠变化之间的关系.
主要方法:
- 利用了来自遗传前性痴呆症倡议 (GENFI) 研究的数据.
- 包括491名成年遗传FTD变异携带者和321名具有结构性MRI数据的对照.
- 采用线性混合效应模型来分析睡眠功能障碍 (剑桥行为库修订) 和下丘脑体积随时间变化的变化.
主要成果:
- 与对照人群相比,遗传性FTD携带者在整个成年期表现出更大的睡眠功能障碍.
- 携带MAPT基因的携带者表现出症状前的睡眠变化以及睡眠相关的下丘脑区域的显著,持续的体积损失.
- 在C9orf72/GRN携带者中,前额/双肩区域的皮质稀薄与睡眠障碍相关;在MAPT携带者中,下丘脑缩与睡眠功能障碍有关.
结论:
- 睡眠调节的下丘脑子单元的缩似乎有助于遗传FTD的睡眠功能障碍.
- 携带MAPT基因突变的携带者表现出最明显和持续的下丘脑缺陷和睡眠障碍.
- 虽然研究结果表明存在强烈的关联,但下丘脑缩和睡眠障碍之间的因果关系需要进一步调查.
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