title: Genetic leukoencephalopathies with unknown metabolic pathogenesis.
abstract: The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are useful for the laboratory confirmation of the clinical suspicion.
authors.affiliation: Neurometabolic Diseases Unit, Research Center for Neurohandicap Medical School, University of Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: C
authors.initials: C
authors.lastname: Battisti
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: E
authors.initials: E
authors.lastname: Cardaioli
authors.forename: P
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: P
authors.initials: P
authors.lastname: Formichi
authors.forename: F
authors.initials: F
authors.lastname: Sicurelli
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D003711:Demyelinating Diseases / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000145:classification* / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000473:pathology