Pelizaeus–Merzbacher disease (PMD): pathology
Evidence-based neurology checklist on pelizaeus–merzbacher disease (pmd): pathology: Genetics and pathology This is caused by mutations in the proteolipid protein (PLP1) gene There are >100 point mutations The transmission is X-linked recessive The mutation causes hypomyelination The onset age is…
Genetics and pathology
- This is caused by mutations in the proteolipid protein (PLP1) gene
- There are >100 point mutations
- The transmission is X-linked recessive
- The mutation causes hypomyelination
- The onset age is usually between 1-8 months
Types
References
- Hoffman-Zacharska D, Mierzewska H, et al. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. Med Wieku Rozwoj 2013; 17:293-300.
- Laukka JJ, Stanley JA, Garbern JY, et al. Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease. J Neurol Sci 2013; 335:75-81.
- Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Genetic disorders affecting white matter in the pediatric age. Am J Med Genet B Neuropsychiatr Genet 2004; 129B:85-93.
- Wolf NI, Sistermans EA, Cundall M, et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005; 128:743-751.
