title: [Congenital cerebral hypomyelination---Pelizaeus-Merzbacher disease and associated disorders].
abstract: Congenital cerebral hypomyelination includes a group of genetic disorders, such as Pelizaeus-Merzbacher disease (PMD), and is characterized by hypomyelination of the cerebral white matter. Until recently, no classification system was available for congenital hypomyelination disorders that are clinically and genetically excluded for PMD. However, the establishment of new disease entities with gene discoveries has generated a clinical need for a new classification and diagnostic criteria for this group of disorders. Here, we review the recent findings on congenital cerebral hypomyelination, which includes 11 diseases, with a novel disease classification and diagnostic criteria with flow charts.
authors.affiliation: Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo. kinoue@ncnp.go.jp
authors.forename: Ken
authors.initials: K
authors.lastname: Inoue
authors.forename: Akiko
authors.initials: A
authors.lastname: Iwaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Takanashi
authors.forename: Kimiko
authors.initials: K
authors.lastname: Deguchi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
mesh_terms: D018834:Chaperonin 60 / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D017630:Connexins / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics; D027501:Monocarboxylic Acid Transporters / Q000235:genetics; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D057089:Pathology, Molecular; D020371:Pelizaeus-Merzbacher Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D055757:SOXE Transcription Factors / Q000235:genetics; D027981:Symporters
chemical_list: D018834:Chaperonin 60; D017630:Connexins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D027501:Monocarboxylic Acid Transporters; D018991:Myelin Proteolipid Protein; D055757:SOXE Transcription Factors; D027981:Symporters; C412048:HYCC1 protein, human; C060293:HSPD1 protein, human; C472930:PLP1 protein, human; C090735:SLC16A2 protein, human; C527923:SOX10 protein, human; C427305:connexin 47