title: An update on the leukodsytrophies.
abstract: This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in some patients, and megalencephalic leukoencephalopathy with subcortical cysts whose gene has recently been cloned. These, along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demonstrate that an increasing number of protein and metabolic abnormalities can cause primary myelin disorders.
authors.affiliation: National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. rs4e@nih.gov
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: O
authors.initials: O
authors.lastname: Boespflüg-Tanguy
mesh_terms: D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018991:Myelin Proteolipid Protein / Q000235:genetics
chemical_list: D005904:Glial Fibrillary Acidic Protein; D018991:Myelin Proteolipid Protein