Twin pairs discordant for neuropathologically confirmed Lewy body dementia.
Twin pairs discordant for neuropathologically confirmed Lewy body dementia.
复制标题
双胞胎对神经病理学确认的路易身体痴呆不一致。
DOI：
10.1136/jnnp.2008.151654
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发表时间：
2009-05
期刊：
影响因子：
--
通讯作者：
Plassman BL
中科院分区：
文献类型：
--
作者：
Wang CS;Burke JR;Steffens DC;Hulette CM;Breitner JC;Plassman BL
关于双胞胎路易体痴呆（DLB）的一致率知之甚少。DLB的临床和病理诊断之间的一致率通常较低，需要神经病理学上的诊断确认。参与者是参加杜克双胞胎衰老记忆研究的17对双胞胎，其中至少一名成员有尸检确诊的DLB、阿尔茨海默病（AD）伴路易体或额颞叶痴呆伴路易体。我们评估了痴呆症患者的特征，并检查了病理证实的痴呆症的一致率。四对同卵双胞胎有一个先证者与神经病理学证实的纯DLB，所有仍然不一致的痴呆期长达16年或更长。在13对先证者患有AD加DLB的双胞胎中，有5对与痴呆一致，但只有一对与AD加DLB一致，而其他4对中的双生子患有其他类型的痴呆。目前的研究表明，即使在双胞胎中，双胞胎中一个DLB的诊断并不能预测另一个双胞胎的相同诊断。单卵对痴呆类型的神经病理学不一致性提示环境或表观遗传因素在路易体病理学中起作用。
Little is known about the concordance rate in twins for dementia with Lewy bodies (DLB). The rate of agreement between clinical and pathological diagnoses for DLB is typically low, necessitating confirmation of the diagnosis neuropathologically. Participants were 17 twin pairs enrolled in the Duke Twins Study of Memory in Aging in which at least one member of the pair had an autopsy confirmed diagnosis of DLB, Alzheimer's disease (AD) with Lewy bodies, or fronto-temporal dementia with Lewy bodies. We assessed characteristics of those with dementia and examined rates of concordance for pathological confirmed dementia. Four monozygotic twin pairs had a proband with neuropathologically confirmed pure DLB; all remained discordant for dementia for periods up to 16 years or more. Five of 13 pairs in which the proband had AD plus DLB were concordant for dementia, but only one pair was concordant for AD plus DLB, while the cotwins in the other four pairs had other types of dementia. The present study indicates that even among twins, a diagnosis of DLB in one twin does not predict the same diagnosis in the other twin. Neuropathological discordance in type of dementia among monozygotic pairs hints at environmental or epigenetic factors playing a role in Lewy body pathology.
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