TY - JOUR T1 - Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 77 LP - 83 DO - 10.3174/ajnr.A4938 VL - 38 IS - 1 AU - T. Konno AU - D.F. Broderick AU - N. Mezaki AU - A. Isami AU - D. Kaneda AU - Y. Tashiro AU - T. Tokutake AU - B.M. Keegan AU - B.K. Woodruff AU - T. Miura AU - H. Nozaki AU - M. Nishizawa AU - O. Onodera AU - Z.K. Wszolek AU - T. Ikeuchi Y1 - 2017/01/01 UR - http://www.ajnr.org/content/38/1/77.abstract N2 - SUMMARY: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the colony stimulating factor 1 receptor gene. Accurate diagnosis can be difficult because the associated clinical and MR imaging findings are nonspecific. We present 9 cases with intracranial calcifications distributed in 2 brain regions: the frontal white matter adjacent to the anterior horns of the lateral ventricles and the parietal subcortical white matter. Thin-section (1-mm) CT scans are particularly helpful in detection due to the small size of the calcifications. These calcifications had a symmetric “stepping stone appearance” in the frontal pericallosal regions, which was clearly visible on reconstructed sagittal CT images. Intrafamilial variability was seen in 2 of the families, and calcifications were seen at birth in a single individual. These characteristic calcification patterns may assist in making a correct diagnosis and may contribute to understanding of the pathogenesis of leukoencephalopathy.ALSPadult-onset leukoencephalopathy with axonal spheroids and pigmented gliaCSF1Rcolony stimulating factor 1 receptorTORCH syndromeToxoplasmosis, Other agents, Rubella, Cytomegalovirus, and Herpes simplex ER -