Characteristics of established and proposed sporadic creutzfeldt-jakob disease variants

Brian S. Appleby, Kristin K. Appleby, Barbara J. Crain, Chiadi U. Onyike, Mitchell T. Wallin, Peter V. Rabins

Research output: Contribution to journalArticlepeer-review

58 Scopus citations


Background: 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 neu-ropsychiatric symptoms, suggesting that there may be additional sCJD phenotypes. Objective: To characterize clinical, diagnostic, and molecular features of 5 sCJD variants. Design: Retrospective analysis. Setting: The Johns Hopkins and Veterans Administration health care systems. participants: Eighty-eight patients with definite or probable sCJD. Main Outcome Measures: Differences in age at onset, illness progression, diagnostic test results, and molecular subtype. Results: The age at onset differed among sCJD variants (p =.03); the affective variant had the youngest mean age at onset (59.7 years). Survival time (p<.001) and the time to clinical presentation (p =.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; P=.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 electroen-cephalography 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. Conclusions: The classic CJD phenotype and the Heiden-hain, Oppenheimer-Brownell, cognitive, and affective sCJD variants differ by age at disease onset, survival time, and diagnostic test results. Characteristics of these 5 phe-notypes are provided to facilitate further clinicopatho-logic investigation that may lead to more reliable and timely diagnoses of sCJD.

Original languageEnglish (US)
Pages (from-to)208-215
Number of pages8
JournalArchives of neurology
Issue number2
StatePublished - Feb 2009

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology


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