Pelizaeus-Merzbacher disease: Genetic and cellular pathogenesis |
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Authors: | J Y Garbern |
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Institution: | (1) Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, 421 E Canfield Room 3217, Detroit, MI 48201, USA |
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Abstract: | Pelizaeus-Merzbacher disease (PMD) and the allelic spastic paraplegia type 2 (SPG2) arise from mutations in the X-linked gene
encoding myelin proteolipid protein (PLP). Analysis of mutations affecting PLP, the major protein in central nervous system
myelin, has revealed previously unsuspected roles for myelinating glia in maintaining the integrity of the nervous system.
The disease spectrum for PMD and SPG2 is extraordinarily broad and can be best understood by accounting not only for the wide
range of mutations that can occur but also for the effects of PLP1 mutations on both cell autonomous and non-cell autonomous processes in myelinating cells. Appreciating the wide range of
genetic and cellular effects of PLP1 mutations is important for patient and family counseling, understanding disease pathogenesis, and, ultimately, for developing
future disease-specific therapies.
Received 24 April 2006; received after revision 3 July 2006; accepted 9 October 2006 |
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Keywords: | Pelizaeus-Merzbacher proteolipid protein myelin leukodystrophy unfolded protein response gene duplication axo-glial interactions |
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