title: Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter.
abstract: This is a multiparametric MR study of the first reported patient with adult-onset genetically confirmed vanishing white matter (VWM) disease. It shows that, despite the presence of a severe and diffuse damage of the brain WM, brain gray matter, and cervical cord tissue, the cortical adaptive capacities were relatively preserved. Interpatient variability of brain plasticity may contribute to the known phenotypic variation of patients with VWM disease.
authors.affiliation: Neuroimaging Research Unit, Department of Neurology, Scientific Institute and University Ospedale San Raffaele, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Gallo
authors.forename: M A
authors.initials: MA
authors.lastname: Rocca
authors.forename: A
authors.initials: A
authors.lastname: Falini
authors.forename: C
authors.initials: C
authors.lastname: Scaglione
authors.forename: F
authors.initials: F
authors.lastname: Salvi
authors.forename: A
authors.initials: A
authors.lastname: Gambini
authors.forename: L
authors.initials: L
authors.lastname: Guerrini
authors.forename: M
authors.initials: M
authors.lastname: Mascalchi
authors.forename: J C
authors.initials: JC
authors.lastname: Pronk
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: M
authors.initials: M
authors.lastname: Filippi
mesh_terms: D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D001931:Brain Mapping; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D020271:Heredodegenerative Disorders, Nervous System / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008875:Middle Aged; D020125:Mutation, Missense; D011597:Psychomotor Performance
chemical_list: D020717:Eukaryotic Initiation Factor-2B