苍白球脑桥黑质变性家族11例成员的快动眼睡眠行为障碍缺失

查看全文 作　　者：Boeve [1]B.F.;Strongosky A.;邱伟庆 机构地区：[1]Department of Neurology, Mayo Clinic, 200 1st St SW, Rochester, MN 55905, United States Dr. 出　　处：《世界核心医学期刊文摘(神经病学分册)》索引2006年第2卷第6期,共2页 摘　　要：Background: Rapid eye movement sleep behavior disorder (RBD) is a parasomnia that is manifested by dream enactment behavior. The electrophysiologic substrate for RBD on polysomnography is rapid eye movement sleep without atonia. Rapid eye movement sleep behavior disorder likely stems from neuronal network dysfunction in the brainstem, although it is not yet clear which specific networks are involved. Rapid eye movement sleep behavior disorder is often associated with the sporadic synucleinopathies but rarely associated with the sporadic tauopathies. There are no reports on the possible association of rapid eye movement sleep without atonia and RBD with any familial tauopathy. Objective: To characterize the clinical sleep and polysomnography features in a kindred with a familial tauopathy. Methods: We performed standard polysomnography in 11 members of the pallidopontonigral degeneration kindred irrespective of any sleep-related complaints. Neuropathologic findings were analyzed in those who subsequently underwent autopsy. Results: Six affected and 5 genealogically at-risk family members were studied. None of the 11 had a history of dream enactment behavior. Nine of the 11 members attained sufficient rapid eye movement sleep on polysomnography, and the electrophysiologic features of rapid eye movement sleep without atonia and behavioral manifestations of RBD were absent in all subjects. Neuropathologic examination of 4 affected individuals revealed marked nigral degeneration in 3 along with mild degenerative changes in the locus coeruleus, pontine nuclei and tegmentum, and medullary tegmentum. Conclusions: These findings argue against nigral degeneration being the primary cause of RBD. The absence of the historical, electrophysiologic, and behavioral manifestations of RBD in this kindred provides further evidence that RBD is rare in the sporadic and familial tauopathies. The difference in frequencies of RBD associated with the synucleinopathies compared with the tauopathies suggests differences in the selective vulnerability of brainstem circuits between the synucle inopathies and tauopathies. 关 键 词：快动眼睡眠行为障碍 黑质变性 家族性 苍白球 脑桥 多导睡眠图检查 神经元网络 触核蛋白 家族成员