Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.

In 1984, Axelsson et al. described the first family with hereditary diffuse leukoencephalopathy with spheroids (HDLS) [2]. In 2011 mutations in the colony stimulating factor 1 receptor (CSF1R; MIM 164770) gene were discovered to be responsible for HDLS [6]. After this seminal finding, several other groups confirmed the presence of the CSF1R gene mutation in… CONTINUE READING