The Co-Occurrence of Alzheimer's Disease and Huntington's Disease: A Neuropathological Study of 15 Elderly Huntington's Disease Subjects
The Co-Occurrence of Alzheimer's Disease and Huntington's Disease: A Neuropathological Study of 15 Elderly Huntington's Disease Subjects
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DOI：
10.3233/jhd-140111
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发表时间：
2014-01-01
影响因子：
3.1
通讯作者：
Bird, Thomas
中科院分区：
文献类型：
--
作者：
Davis, Marie Y.;Keene, C. Dirk;Bird, Thomas
背景：痴呆是亨廷顿病(HD)和阿尔茨海默病(AD)的共同特征，在普通老年人群中也是如此。目的：回顾15例老年HD患者(年龄60~91岁)的神经病理学表现，其中11例有明显的临床痴呆。方法：采用Vonattel分级和Htt重复扩增、Bielskowsky、tau、β淀粉样蛋白和TDP43免疫组织化学染色等方法对15例老年HD患者进行脑组织病理学检查。结果：平均死亡年龄76.8岁，平均病程18.6年，平均CAG重复扩增42例。除HD病理外，在11名患有严重痴呆的患者中，有9名(82%)存在AD的证据，这表明AD与HD可能比先前所认为的更常见。两名患者仅有HD作为痴呆的基础，四名患者没有明显的痴呆。1例具有明显帕金森病特征的患者在尸检时没有L-多巴反应，并且没有黑质路易体。结论：我们的研究表明，AD可能经常导致老年HD患者的认知能力下降，从而使对此类患者的评估和管理复杂化。需要进一步的研究来确定HD患者中AD的发病率是否高于普通人群。此外，我们的系列包括一名HD患者，其临床特征伪装成帕金森病，但对左旋多巴治疗无效。
Background: Dementia is a common feature in both Huntington's disease (HD) and Alzheimer's disease (AD), as well as in the general elderly population. Few studies have examined elderly HD patients with dementia for neuropathologic evidence of both HD and AD.Objective: We present neuropathological findings in a retrospective case series of 15 elderly HD patients (ages 60-91 years), 11 of whom had prominent clinical dementia.Methods: Post-mortem brain tissue was examined and stained for evidence of both HD and AD including Vonsattel grading and Htt-repeat expansion, Bielskowsky, tau, beta amyloid, and TDP43 immunostaining.Results: Mean age at death was 76.8 years, mean disease duration was 18.6 years, and mean CAG repeat expansion was 42. Evidence of AD in addition to HD pathology was present in 9 of 11 (82%) patients with prominent dementia, suggesting that AD may be more commonly co-occurring with HD than previously appreciated. Two patients had only HD as the basis of dementia and four patients did not have prominent dementia. One patient with marked parkinsonian features was not L-dopa responsive and had no substantia nigra Lewy bodies at autopsy.Conclusions: Our study suggests thatADmay frequently contribute to cognitive decline in elderlyHDpatients which complicates the assessment and management of such individuals. Further study is needed to determine if there is a higher incidence of AD in persons with HD compared to the general population. In addition, our series includes one HD patient whose clinical features masqueraded as Parkinson's disease but was not responsive to levodopa therapy.