Myelination of a fetus with Pelizaeus-Merzbacher disease: immunopathological study.
We report an autopsied case of a 21-gestational-week fetus with duplication of the proteolipid protein (PLP) gene (PLP1). An immunohistochemical study, which can detect the specific expression of PLP, myelin basic protein, myelin-associated glycoprotein, and platelet-derived growth factor receptor alpha subunit in brain tissues, showed that the myelination was almost the same as that of age-matched controls. This result suggests that the development and migration of the oligodendrocyte is normal in Pelizaeus-Merzbacher disease until midgestation. To our knowledge, this is the first report of the myelination of a fetus with duplication of the PLP1 gene.
Shiraishi
Kazuhiro
K
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
Itoh
Masayuki
M
Sano
Kenji
K
Takashima
Sachio
S
Kubota
Takeo
T
D000328:Adult; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein / Q000235:genetics; D009186:Myelin Sheath / Q000473:pathology*; D018992:Myelin-Associated Glycoprotein / Q000235:genetics; D020371:Pelizaeus-Merzbacher Disease / Q000473:pathology*; D011247:Pregnancy; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics
D008565:Membrane Proteins; D018991:Myelin Proteolipid Protein; D018992:Myelin-Associated Glycoprotein; C472930:PLP1 protein, human; D020796:Receptor, Platelet-Derived Growth Factor alpha