A new proteolipid lipoprotein mutation in Pelizæus-Merzbacher disease

Verhagen, W. I. M.; Huygen, P.L.M.; Smeets, H.; Renier, W.O.; Wijs, Ilse de

doi:10.1016/s0022-510x(96)05329-4

Cited by 1 publication

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“…Since advances in genome analysis have been made, several different plp 1 mutations, which produce abnormal PLP1/DM20 in patients with PMD, have been confirmed (Table ) . For example, in 1989, Hudson et al .…”

Section: Cellular and Molecular Pathogenesis Of Pmdmentioning

confidence: 99%

Pelizaeus–Merzbacher disease: Cellular pathogenesis and pharmacologic therapy

Torii

Miyamoto

Yamauchi

et al. 2014

Pediatrics International

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Pelizaeus-Merzbacher disease (PMD) is a rare leukodystrophy that causes severe dysmyelination in the central nervous system in infancy and early childhood. Many previous studies showed that various proteolipid protein 1 (plp1) mutations, including duplications, point mutations, and deletions, lead to oligodendrocyte dysfunction in patients with PMD. PMD onset and clinical severity range widely, depending on the type of plp1 mutation. Patients with PMD exhibit a delayed mental and physical development phenotype, but specific pharmacological therapy and clinical treatment for PMD are not yet well established. This review describes PMD pathology and establishment of new clinical treatment for PMD. These findings support the development of a new therapy for PMD and these treatments may improve the quality of life in patients with PMD.Key words cellular pathogenesis, hypomyelination, Pelizaeus-Merzbacher disease, pharmacologic therapy, proteolipid protein 1, X-linked leukodystrophy.The myelin sheath, which is produced in oligodendrocytes, wraps around the axon of neurons and supports neuronal functions such as the velocity of axonal impulse conduction and axon survival.

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Section: Cellular and Molecular Pathogenesis Of Pmdmentioning

confidence: 99%