Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder.
Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder.
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DOI：
10.1016/j.sleep.2012.10.015
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发表时间：
2013-08
期刊：
影响因子：
4.8
通讯作者：
Dickson, D. W.
中科院分区：
文献类型：
--
作者：
Boeve, B. F.;Silber, M. H.;Ferman, T. J.;Lin, S. C.;Benarroch, E. E.;Schmeichel, A. M.;Ahlskog, J. E.;Caselli, R. J.;Jacobson, S.;Sabbagh, M.;Adler, C.;Woodruff, B.;Beach, T. G.;Iranzo, A.;Gelpi, E.;Santamaria, J.;Tolosa, E.;Singer, C.;Mash, D. C.;Luca, C.;Arnulf, I.;Duyckaerts, C.;Schenck, C. H.;Mahowald, M. W.;Dauvilliers, Y.;Graff-Radford, N. R.;Wszolek, Z. K.;Parisi, J. E.;Dugger, B.;Murray, M. E.;Dickson, D. W.
关键词：
目的：探讨伴或不伴神经系统疾病的快速眼动（REM）睡眠行为障碍（RBD）患者的病理基础。对来自北美和欧洲一个合作研究中心的所有尸检病例的临床和神经病理学结果进行了分析，从1990年1月至2012年3月进行了评价，并诊断为多导睡眠图（PSG）证实或可能的RBD伴或不伴共存的神经系统疾病。临床和神经病理学诊断基于已发表的标准。确定了172例病例，其中143例（83%）为男性。核心特征的平均± SD发病年龄（岁）如下- RBD，62 ± 14（范围，20-93），认知障碍（n = 147）; 69 ± 10（范围，22-90），帕金森综合征（n = 151）; 68 ± 9（范围，20-92），和自主神经功能障碍（n = 42）; 62 ± 12（范围，23-81）。死亡年龄为75 ± 9岁（范围，24-96岁）。82例（48%）经PSG证实患有RBD，64例（37%）有反复做梦行为的经典病史，26例（15%）经问卷调查筛选为RBD阳性。在87例（51%）患者中，RBD先于认知障碍、帕金森综合征或自主神经功能障碍发作10 ± 12（范围，1-61）年。患有共存神经系统疾病的患者中的主要临床诊断是路易体痴呆（n = 97），帕金森病伴或不伴轻度认知障碍或痴呆（n = 32），多系统萎缩（MSA）（n = 19），阿尔茨海默病（AD）（n = 9）和其他各种疾病，包括继发性发作性睡病（n = 2）和神经变性与脑铁积累1型（NBAI-1）（n = 1）。神经病理诊断为路易体病（n = 77，包括1例α-突触核蛋白编码基因重复的病例）、LBD和AD合并（n = 59）、MSA（n = 19）、AD（n = 6）、进行性核上麻痹（PSP）（n = 2）、其他混合性神经退行性病变（n = 6）、NBIA-1/LBD/tau蛋白病（n = 1），下丘脑结构性病变2例。在与RBD相关的神经退行性疾病（n = 170）中，160例（94%）为突触核蛋白病。当RBD先于其他神经退行性综合征特征发作时，RBD-突触核蛋白病的相关性特别高。在这个接受尸检的PSG证实和可能的RBD病例的大系列中，RBD与突触核蛋白病的强相关性得到进一步证实，现在更明显的是RBD的基础疾病范围更广。
To determine the pathologic substrates in patients with rapid eye movement (REM) sleep behavior disorder (RBD) with or without a coexisting neurologic disorder. The clinical and neuropathologic findings were analyzed on all autopsied cases from one of the collaborating sites in North America and Europe, were evaluated from January 1990 to March 2012, and were diagnosed with polysomnogram (PSG)-proven or probable RBD with or without a coexisting neurologic disorder. The clinical and neuropathologic diagnoses were based on published criteria. 172 cases were identified, of whom 143 (83%) were men. The mean ± SD age of onset in years for the core features were as follows – RBD, 62 ± 14 (range, 20–93), cognitive impairment (n = 147); 69 ± 10 (range, 22–90), parkinsonism (n = 151); 68 ± 9 (range, 20–92), and autonomic dysfunction (n = 42); 62 ± 12 (range, 23–81). Death age was 75 ± 9 years (range, 24–96). Eighty-two (48%) had RBD confirmed by PSG, 64 (37%) had a classic history of recurrent dream enactment behavior, and 26 (15%) screened positive for RBD by questionnaire. RBD preceded the onset of cognitive impairment, parkinsonism, or autonomic dysfunction in 87 (51%) patients by 10 ± 12 (range, 1–61) years. The primary clinical diagnoses among those with a coexisting neurologic disorder were dementia with Lewy bodies (n = 97), Parkinson’s disease with or without mild cognitive impairment or dementia (n = 32), multiple system atrophy (MSA) (n = 19), Alzheimer’s disease (AD)(n = 9) and other various disorders including secondary narcolepsy (n = 2) and neurodegeneration with brain iron accumulation-type 1 (NBAI-1) (n = 1). The neuropathologic diagnoses were Lewy body disease (LBD)(n = 77, including 1 case with a duplication in the gene encoding α-synuclein), combined LBD and AD (n = 59), MSA (n = 19), AD (n = 6), progressive supranulear palsy (PSP) (n = 2), other mixed neurodegenerative pathologies (n = 6), NBIA-1/LBD/tauopathy (n = 1), and hypothalamic structural lesions (n = 2). Among the neurodegenerative disorders associated with RBD (n = 170), 160 (94%) were synucleinopathies. The RBD-synucleinopathy association was particularly high when RBD preceded the onset of other neurodegenerative syndrome features. In this large series of PSG-confirmed and probable RBD cases that underwent autopsy, the strong association of RBD with the synucleinopathies was further substantiated and a wider spectrum of disorders which can underlie RBD now are more apparent.
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影响因子：
4.8
作者：
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Silber, Michael H.
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Mahowald, MW
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Petersen, RC
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9.9
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通讯作者：
Agid, Y
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通讯作者：
Durr, Alexandra