title: Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy.
abstract: Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infancy and early childhood. Many previous studies showed that various proteolipid protein 1 (plp1) mutations, including duplications, point mutations, and deletions, lead to oligodendrocyte dysfunction in patients with PMD. PMD onset and clinical severity range widely, depending on the type of plp1 mutation. Patients with PMD exhibit a delayed mental and physical development phenotype, but specific pharmacological therapy and clinical treatment for PMD are not yet well established. This review describes PMD pathology and establishment of new clinical treatment for PMD. These findings support the development of a new therapy for PMD and these treatments may improve the quality of life in patients with PMD.
authors.affiliation: Department of Pharmacology, National Research Institute for Child Health and Development, Tokyo, Japan.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Torii
authors.forename: Yuki
authors.initials: Y
authors.lastname: Miyamoto
authors.forename: Junji
authors.initials: J
authors.lastname: Yamauchi
authors.forename: Akito
authors.initials: A
authors.lastname: Tanoue
mesh_terms: D002648:Child; D006801:Humans; D020371:Pelizaeus-Merzbacher Disease / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics
keywords: Pelizaeus-Merzbacher disease; X-linked leukodystrophy; cellular pathogenesis; hypomyelination; pharmacologic therapy; proteolipid protein 1