TY - JOUR
T1 - Characteristics of established and proposed sporadic creutzfeldt-jakob disease variants
AU - Appleby, Brian S.
AU - Appleby, Kristin K.
AU - Crain, Barbara J.
AU - Onyike, Chiadi U.
AU - Wallin, Mitchell T.
AU - Rabins, Peter V.
PY - 2009/2
Y1 - 2009/2
N2 - 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.
AB - 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.
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U2 - 10.1001/archneurol.2008.533
DO - 10.1001/archneurol.2008.533
M3 - Article
C2 - 19204157
AN - SCOPUS:60549089053
SN - 0003-9942
VL - 66
SP - 208
EP - 215
JO - Archives of neurology
JF - Archives of neurology
IS - 2
ER -