APOLIPOPROTEIN-E PHENOTYPE FREQUENCY AND CEREBROSPINAL-FLUID CONCENTRATION ARE NOT ASSOCIATED WITH CREUTZFELDT-JAKOB-DISEASE

Objective: To analyze the distribution of apolipoprotein E (Apo E) phe notypes between patients with Creutzfeldt-Jakob disease (CJD) and cont rol subjects. Setting: University hospital, base of the German Nationa l CJD Surveillance Study. Design: Prospective case-control study. Subj ects: Sixty-two patients with definite or probable CJD, 90 patients wi th initial suspected CJO, and 51 controls matched for age, sex, and pl ace of residence. Main Outcome Measures: Phenotyping of Apo E in serum by isoelectric focusing, assessment of the gels by 3 independent inve stigators, measurement of of Apo E in cerebrospinal fluid using an enz yme-linked immunosorbent assay, and calculation of Kaplan-Meier cumula tive survival plots. Results: The most frequent phenotype was E 3-3 wi th 56% in patients and 59% in controls, followed by E 3-4 with a frequ ency of 29% vs 25%, respectively. The phenotype E 3-2 was much rarer ( 13% vs 16%, respectively). Patients with definite CJD had a mean (SD) Apo E concentration of 3.4 (2.0) mg/L; patients with probable CJD, 3.1 (1.6) mg/L; patients with possible CJD, 3.8 (2.2) mg/L; and subjects with other diseases, 3.0 (1.7) mg/L. Mean (SD) disease duration for pa tients with E 3-2 was 11.8 (9.8) months; for patients with E 3-3, 12.0 (9.02) months; and for patients with E 3-4, 14.2 (12.3) months. Concl usions: We found no significant difference in the distribution of Apo E phenotypes between patients with CJD and controls. The concentration of Apo E in cerebrospinal fluid cannot be taken as a biochemical mark er for the disease. The Apo E phenotype had no influence on the durati on of CJD. Our data do not support an association of Apo E4 with eithe r the duration or time at onset of CJD.