title: Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
abstract: 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.
authors.affiliation: From the Departments of Neurology (T.K., Z.K.W.).|Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: T
authors.identifier: 0000-0002-2685-0025
authors.initials: T
authors.lastname: Konno
authors.affiliation: Radiology (D.F.B.), Mayo Clinic Florida, Jacksonville, Florida.
authors.forename: D F
authors.identifier: 0000-0002-9987-8803
authors.initials: DF
authors.lastname: Broderick
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: N
authors.identifier: 0000-0002-5219-2134
authors.initials: N
authors.lastname: Mezaki
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: A
authors.identifier: 0000-0002-4952-5698
authors.initials: A
authors.lastname: Isami
authors.affiliation: Department of Neurology (D.K.), Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.|Department of Neurology (D.K.), Osaka Red Cross Hospital, Osaka, Japan.
authors.forename: D
authors.identifier: 0000-0001-9431-8105
authors.initials: D
authors.lastname: Kaneda
authors.affiliation: Department of Neurology (Y.T.), National Hospital Organization Mito Medical Center, Ibaraki, Japan.
authors.forename: Y
authors.identifier: 0000-0001-7028-0579
authors.initials: Y
authors.lastname: Tashiro
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: T
authors.identifier: 0000-0002-4808-0471
authors.initials: T
authors.lastname: Tokutake
authors.affiliation: Department of Neurology (B.M.K.), Mayo Clinic Rochester, Rochester, Minnesota.
authors.forename: B M
authors.identifier: 0000-0001-8072-0814
authors.initials: BM
authors.lastname: Keegan
authors.affiliation: Department of Neurology (B.K.W.), Mayo Clinic Arizona, Scottsdale, Arizona.
authors.forename: B K
authors.identifier: 0000-0002-4728-7294
authors.initials: BK
authors.lastname: Woodruff
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: T
authors.identifier: 0000-0002-3397-9214
authors.initials: T
authors.lastname: Miura
authors.affiliation: Medical Technology (H.N.), School of Health Sciences Faculty of Medicine, Niigata University, Niigata, Japan.
authors.forename: H
authors.identifier: 0000-0001-5320-550X
authors.initials: H
authors.lastname: Nozaki
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: M
authors.identifier: 0000-0001-9442-6827
authors.initials: M
authors.lastname: Nishizawa
authors.affiliation: Departments of Neurology (T.K., N.M., A.I., T.T., T.M., M.N., O.O.).
authors.forename: O
authors.identifier: 0000-0003-3354-5472
authors.initials: O
authors.lastname: Onodera
authors.affiliation: From the Departments of Neurology (T.K., Z.K.W.).
authors.forename: Z K
authors.identifier: 0000-0001-5487-1053
authors.initials: ZK
authors.lastname: Wszolek
authors.affiliation: Molecular Genetics (T.I.), Brain Research Institute ikeuchi@bri.niigata-u.ac.jp.
authors.forename: T
authors.identifier: 0000-0001-8828-8085
authors.initials: T
authors.lastname: Ikeuchi
mesh_terms: D000328:Adult; D001369:Axons; D002114:Calcinosis / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging* / Q000473:pathology; D008297:Male; D009457:Neuroglia; D014057:Tomography, X-Ray Computed / Q000379:methods*