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Is involvement of inflammation underestimated in Pelizaeus-Merzbacher disease?
Marteyn A, Baron-Van Evercooren A. Marteyn A, et al. J Neurosci Res. 2016 Dec;94(12):1572-1578. doi: 10.1002/jnr.23931. Epub 2016 Sep 23. J Neurosci Res. 2016. PMID: 27661457 Review.
Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating leukodystrophy resulting from proteolipid protein 1 gene (PLP1) mutations leading to oligodendrocyte loss. ...
Pelizaeus-Merzbacher disease (PMD) is a severe hypomyelinating leukodystrophy resulting from proteolipid protein 1 gene (PLP1) …
Leukodystrophies and genetic leukoencephalopathies in children.
Sarret C. Sarret C. Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):10-19. doi: 10.1016/j.neurol.2019.04.003. Epub 2019 Jun 4. Rev Neurol (Paris). 2020. PMID: 31174885 Review.
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matter. ...
Leukodystrophies and genetic leukoencephalopathies are a large group of genetic disorders affecting central nervous system white matt …
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Hobson GM, Garbern JY. Hobson GM, et al. Semin Neurol. 2012 Feb;32(1):62-7. doi: 10.1055/s-0032-1306388. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422208 Review.
Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and cognitive impairment; the major findings in SPG2 are leg weakness and spasticity. A diffuse pattern of hypomyelination is seen on magnetic resonance imaging (MRI) of …
Signs of PMD include nystagmus, hypotonia, tremors, titubation, ataxia, spasticity, athetotic movements and cognitive impairment; the major …
RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.
Biglari S, Vahidnezhad H, Tabatabaiefar MA, Khorram Khorshid HR, Esmaeilzadeh E. Biglari S, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2435. doi: 10.1002/mgg3.2435. Mol Genet Genomic Med. 2024. PMID: 38618971 Free PMC article. Review.
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the cytoplasmic tRNA synthetase for arginine (ArgRS). ...Following the literature review, thirty HLD-9 cases from eight studies were found. The …
BACKGROUND: Hypomyelinating leukodystrophy-9 (HLD-9) is caused by biallelic pathogenic variants in RARS1, which codes for the …
The Yin and Yang of cell cycle progression and differentiation in the oligodendroglial lineage.
Nguyen L, Borgs L, Vandenbosch R, Mangin JM, Beukelaers P, Moonen G, Gallo V, Malgrange B, Belachew S. Nguyen L, et al. Ment Retard Dev Disabil Res Rev. 2006;12(2):85-96. doi: 10.1002/mrdd.20103. Ment Retard Dev Disabil Res Rev. 2006. PMID: 16807909 Review.
In white matter disorders such as leukodystrophies (LD), periventricular leucomalacia (PVL), or multiple sclerosis (MS), the hypomyelination or the remyelination failure by oligodendrocyte progenitor cells involves errors in the sequence of events that normally occu …
In white matter disorders such as leukodystrophies (LD), periventricular leucomalacia (PVL), or multiple sclerosis (MS), the hypom …
Canavan disease: a white matter disorder.
Kumar S, Mattan NS, de Vellis J. Kumar S, et al. Ment Retard Dev Disabil Res Rev. 2006;12(2):157-65. doi: 10.1002/mrdd.20108. Ment Retard Dev Disabil Res Rev. 2006. PMID: 16807907 Review.
These early childhood WM diseases are described as hypomyelination or dysmyelination arising from a primary block in normal myelin synthesis because of a genetic mutation expressed in oligodendrocytes, or failure in myelination secondary to neuronal or astroglial dysfuncti …
These early childhood WM diseases are described as hypomyelination or dysmyelination arising from a primary block in normal myelin sy …