Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy
European Journal of Neurology Sep 21, 2019
Kondo Y, et al. - Researchers studied 135 consecutive leukoencephalopathy cases with a clinical suspicion of having adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, to determine statistically factors that correlate with the presence of a colony-stimulating factor 1 receptor (CSF1R) mutation as well as to reassess the precision of the current diagnostic criteria for CSF1R-associated leukoencephalopathy. Via forward logistic stepwise regression, a probability model to predict a positive CSF1R mutation outcome was developed. By this model, younger-onset, parkinsonism, thinning of the corpus callosum, and diffusion-restricted lesions were the factors that increase the likelihood of a CSF1R mutation-positive result. Negative predictors of a CSF1R mutation-positive result were involuntary movements and brainstem or cerebellar atrophy. In this cohort, the sensitivity for “probable” or “possible” CSF1R-associated leukoencephalopathy was 81% and the specificity for the same was 14%.
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