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P elizaeus– M erzbacher disease: Cellular pathogenesis and pharmacologic therapy
Author(s) -
Torii Tomohiro,
Miyamoto Yuki,
Yamauchi Junji,
Tanoue Akito
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12450
Subject(s) - medicine , leukodystrophy , mutation , pathogenesis , phenotype , disease , bioinformatics , gene , genetics , biology
Abstract P elizaeus– M erzbacher 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 .