title: Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Di Giovanni
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Poggiani
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.|Eye Tracking and Visual Application Lab (EVALab), University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Rosini
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.|Eye Tracking and Visual Application Lab (EVALab), University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.affiliation: Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100, Siena, Italy. federico@unisi.it.
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology; D053483:Eye Movement Measurements; D005133:Eye Movements; D005260:Female; D014644:Genetic Variation; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D013116:Spinal Cord / Q000473:pathology
chemical_list: D005904:Glial Fibrillary Acidic Protein