Three cases of Creutzfeldt-Jakob disease presenting with a predominant dysexecutive syndrome.
Three cases of Creutzfeldt-Jakob disease presenting with a predominant dysexecutive syndrome.
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DOI：
10.1007/s00415-022-11045-7
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发表时间：
2022-08
影响因子：
6
通讯作者：
Jones DT
中科院分区：
文献类型：
--
作者：
Corriveau-Lecavalier N;Li W;Ramanan VK;Drubach DA;Day GS;Jones DT
克雅氏病（CJD）是一种罕见的，一致致命的朊病毒疾病。虽然CJD通常表现为快速进展性痴呆、共济失调和肌阵挛，但在临床实践中观察到大量的临床病理异质性。不寻常的和主要的认知临床表现的CJD模仿常见的痴呆综合征是已知的构成一个障碍，早期诊断和预后。我们报告了一系列的三名可能或明确的CJD患者（一男两女，年龄分别为52岁，58岁和68岁），他们在马约诊所罗切斯特的三级行为神经科诊所就诊，符合新定义的进行性执行障碍综合征的标准。18 F-氟脱氧葡萄糖正电子发射断层扫描（FDG-PET）评估的葡萄糖代谢低下模式与阿尔茨海默病（dAD）的执行障碍变体非常相似。然而，磁共振成像（MRI）显示在新皮质区和深核扩散受限，而脑脊液生物标志物显示14-3-3，总tau蛋白和朊病毒接种活性（RT-QuIC）水平异常，建立了CJD的诊断。脑电图（EEG）还显示了以前在CJD的非典型病例中记录的特征。这一系列的临床病例表明，CJD可以表现为主要的执行障碍综合征和FDG-PET代谢低下，通常见于dAD。这提示需要将临床过程的信息与多模式成像和流体生物标志物相结合，以提供痴呆综合征的精确病因学。这对CJD的诊断和预后具有重要的临床意义，因为在神经退行性疾病（如dAD）中出现了进行性执行障碍综合征的临床特征。
Creutzfeldt-Jakob disease (CJD) is a rare, uniformly fatal prion disease. Although CJD commonly presents with rapidly progressive dementia, ataxia, and myoclonus, substantial clinicopathological heterogeneity is observed in clinical practice. Unusual and predominantly cognitive clinical manifestations of CJD mimicking common dementia syndromes are known to pose as an obstacle to early diagnosis and prognosis. We report a series of three patients with probable or definite CJD (one male and two females, ages 52, 58 and 68) who presented to our tertiary behavioral neurology clinic at Mayo Clinic Rochester that met criteria for a newly defined progressive dysexecutive syndrome. Glucose hypometabolism patterns assessed by 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) strongly resembled those of dysexecutive variant of Alzheimer’s disease (dAD). However, magnetic resonance imaging (MRI) demonstrated restricted diffusion in neocortical areas and deep nuclei, while cerebrospinal fluid biomarkers indicated abnormal levels of 14-3-3, total-tau, and prion seeding activity (RT-QuIC), establishing the diagnosis of CJD. Electroencephalogram (EEG) additionally revealed features previously documented in atypical cases of CJD. This series of clinical cases demonstrates that CJD can present with a predominantly dysexecutive syndrome and FDG-PET hypometabolism typically seen in dAD. This prompts for the need to integrate information on clinical course with multimodal imaging and fluid biomarkers to provide a precise etiology for dementia syndromes. This has important clinical implications for the diagnosis and prognosis of CJD in the context of emerging clinical characterization of progressive dysexecutive syndromes in neurogenerative diseases like dAD.
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影响因子：
5.1
作者：
Kim EJ;Cho SS;Jeong BH;Kim YS;Seo SW;Na DL;Geschwind MD;Jeong Y
通讯作者：
Jeong Y
DOI：
10.1016/s1474-4422(20)30440-3
发表时间：
2021-03
期刊：
The Lancet. Neurology
影响因子：
--
作者：
Graff-Radford J;Yong KXX;Apostolova LG;Bouwman FH;Carrillo M;Dickerson BC;Rabinovici GD;Schott JM;Jones DT;Murray ME
通讯作者：
Murray ME
影响因子：
4.7
作者：
Cambier, DM;Kantarci, K;Aksamit, AJ
通讯作者：
Aksamit, AJ
影响因子：
14.5
作者：
Kapur, N;Abbott, P;Will, RG
通讯作者：
Will, RG
影响因子：
2.4
作者：
Orimo, S;Ozawa, E;Mizusawa, H
通讯作者：
Mizusawa, H