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• W2117652407 abstract "<h3>Background</h3> The classic Creutzfeldt-Jakob disease (CJD), Heidenhain, and Oppenheimer-Brownell variants are sporadic CJD (sCJD) phenotypes frequently described in the literature, but many cases present with neuropsychiatric symptoms, suggesting that there may be additional sCJD phenotypes. <h3>Objective</h3> To characterize clinical, diagnostic, and molecular features of 5 sCJD variants. <h3>Design</h3> Retrospective analysis. <h3>Setting</h3> The Johns Hopkins and Veterans Administration health care systems. <h3>Participants</h3> Eighty-eight patients with definite or probable sCJD. <h3>Main Outcome Measures</h3> Differences in age at onset, illness progression, diagnostic test results, and molecular subtype. <h3>Results</h3> The age at onset differed among sCJD variants (<i>P</i> = .03); the affective variant had the youngest mean age at onset (59.7 years). Survival time (<i>P</i> < .001) and the time to clinical presentation (<i>P</i> = .003) differed among groups. Patients with the classic CJD phenotype had the shortest median survival time from symptom onset (66 days) and those who met criteria for the affective sCJD variant had the longest (421 days) and presented to clinicians significantly later (median time from onset to presentation, 92 days;<i>P</i> = .004). Cerebrospinal fluid analyses were positive for 14-3-3 protein in all of the affective variants, regardless of illness duration. Periodic sharp-wave complexes were not detected on any of the electroencephalography tracings in the Oppenheimer-Brownell group; basal ganglia hyperintensity was not detected on brain magnetic resonance imaging in this group either. All of the Heidenhain variants were of the methionine/methionine type 1 molecular subtype. <h3>Conclusions</h3> The classic CJD phenotype and the Heidenhain, Oppenheimer-Brownell, cognitive, and affective sCJD variants differ by age at disease onset, survival time, and diagnostic test results. Characteristics of these 5 phenotypes are provided to facilitate further clinicopathologic investigation that may lead to more reliable and timely diagnoses of sCJD." @default.
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• W2117652407 date "2009-02-01" @default.
• W2117652407 modified "2023-09-25" @default.
• W2117652407 title "Characteristics of Established and Proposed Sporadic Creutzfeldt-Jakob Disease Variants" @default.
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• W2117652407 doi "https://doi.org/10.1001/archneurol.2008.533" @default.
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