Article
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
Acta neuropathologica - 1 Oct 2009
Sima Anders A F, Pierson Christopher R, Woltjer Randall L, Hobson Grace M, Golden Jeffrey A, Kupsky William J, Schauer Galen M, Bird Thomas D, Skoff Robert P, Garbern James Y
Abstract excerpt
Mutations affecting proteolipid protein 1 (PLP1), the major protein in central nervous system myelin, cause the X-linked leukodystrophy Pelizaeus-Merzbacher disease (PMD). We describe the neuropathologic findings in a series of eight male PMD subjects with confirmed PLP1 mutations, including duplications, complete gene deletion, missense and exon-skipping. While PLP1 mutations have effects on oligodendrocytes...
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