title: A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.
abstract: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Di Donato
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Carmen
authors.initials: C
authors.lastname: Stabile
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Taglia
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Mignarri
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Salvatore
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Giorgio
authors.affiliation: Department of Medical Sciences, University of Turin, Turin, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
authors.affiliation: Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organ, University of Bari, Bari, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Simone
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.affiliation: Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D016186:Receptor, Macrophage Colony-Stimulating Factor / Q000235:genetics*
chemical_list: D016186:Receptor, Macrophage Colony-Stimulating Factor
keywords: CSF1R; HDLS; leukoencephalopathy; presenile dementia