Creutzfeldt-Jakob Disease (Genetic) vs Alzheimer's Disease: NFL (CSF)


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In our meta-analysis of two studies, the level of neurofilament light chain in the cerebrospinal fluid of people with genetically-determined Creutzfeldt-Jakob disease (caused by the E200K mutation in PRNP) appeared to be double that of people with Alzheimer's disease (effect size = 2.002, p = 0.039). However, the p value was of marginal signficance, and one study showed higher levels of NFL in gCJD than in AD, while the other study showed lower levels. For comparison, our meta-analysis showed a five-fold increase in CSF NFL in people with sporadic Creutzfeldt-Jakob disease compared with AD patients. A meta-analysis comparing CJD patients —without specifying etiology—to control subjects found a 10-fold increase in the levels of NFL in the CSF of patients (Wang et al., 2017).

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How to interpret a forest plot: Each individual effect size (ES) is a ratio of the mean biomarker level in one condition over the mean level in another condition. An ES equal to 1 means that the two conditions had identical mean values. An ES > 1 indicates higher levels in the first condition, whereas an ES < 1 indicates lower levels in the first condition. The overall ES, indicated by a black diamond, is a weighted average of the individual effect sizes. The weight of each data point was determined by the inverse of the variance and is reflected in the size of each square. The width of the overall ES diamond is determined by the 95 percent confidence interval. Data out of range of the scale, including ES and confidence intervals, are indicated by an arrowhead at the edge of the plot, when applicable. 

Version 3.0, July 2021.