Article
Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 17 Jul 2013
Clark Kristi, Sakowski Lauren, Sperle Karen, Banser Linda, Landel Carlisle P, Bessert Denise A, Skoff Robert P, Hobson Grace M
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a hypomyelinating leukodystrophy caused by mutations of the proteolipid protein 1 gene (PLP1), which is located on the X chromosome and encodes the most abundant protein of myelin in the central nervous sytem. Approximately 60% of PMD cases result from genomic duplications of a region of the X chromosome that includes the entire PLP1 gene. The duplications are typically in a...
Topics
- Animals
- Demyelinating Diseases
- Disease Models, Animal
- Disease Progression
- Gait
- Genotype
- Lameness, Animal
- Mice
- Mice, Transgenic
- Mutation
- Myelin Proteolipid Protein
- Myelin Sheath
- Pelizaeus-Merzbacher Disease