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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.
Holm A, Hansen SN, Klitgaard H, Kauppinen S. Holm A, et al. RNA Biol. 2022;19(1):594-608. doi: 10.1080/15476286.2022.2066334. Epub 2021 Dec 31. RNA Biol. 2022. PMID: 35482908 Free PMC article.
Here, we describe different strategies for delivering RNA drugs to the CNS and review recent advances in clinical development of ASO drugs and siRNA-based therapeutics for the treatment of neurological diseases and neuromuscular disorders.Abbreviations 2'-MOE: 2'-O-(2-methoxyethy …
Here, we describe different strategies for delivering RNA drugs to the CNS and review recent advances in clinical development of ASO drugs a …
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrophies: X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, Pelizaeus-Merzbacher disease, Alexander disease …
The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail for some of the major leukodystrop …
Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Vaia Y, Mura E, Tonduti D. Vaia Y, et al. Mol Genet Metab. 2023 Mar;138(3):107540. doi: 10.1016/j.ymgme.2023.107540. Epub 2023 Feb 10. Mol Genet Metab. 2023. PMID: 36804850 Review.
BACKGROUND AND OBJECTIVES: Alexander disease (AxD) is a rare progressive leukodystrophy caused by autosomal dominant mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. ...
BACKGROUND AND OBJECTIVES: Alexander disease (AxD) is a rare progressive leukodystrophy caused by autosomal dominant mutations …
Alexander disease.
Gordon N. Gordon N. Eur J Paediatr Neurol. 2003;7(6):395-9. doi: 10.1016/j.ejpn.2003.09.004. Eur J Paediatr Neurol. 2003. PMID: 14623218
Alexander disease is a rare disorder with limited understanding of its cause, although it does seem to be a disorder of astrocytes rather than a leukodystrophy. ...
Alexander disease is a rare disorder with limited understanding of its cause, although it does seem to be a disorder of astroc …
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833
RESULTS: A total of 333 patients were included. The overall incidence of epilepsy was 30.6% (102/333). Alexander disease had the highest incidence (77.3%, 51/66), followed by vanishing white matter disease (41.2%, 21/51), Canavan disease (33.3%, 1/3), megalencephali …
RESULTS: A total of 333 patients were included. The overall incidence of epilepsy was 30.6% (102/333). Alexander disease had t …
Dysmyelinating and demyelinating conditions in infancy.
Kolodny EH. Kolodny EH. Curr Opin Neurol Neurosurg. 1993 Jun;6(3):379-86. Curr Opin Neurol Neurosurg. 1993. PMID: 8507907 Review.
Demyelination or breakdown in myelin is characteristic of metachromatic leukodystrophy, Krabbe disease, mitochondrial disorders, adrenoleukodystrophy, Canavan disease, Alexander disease, and orthochromatic leukodystrophy. A fourth category is reserved for malformati …
Demyelination or breakdown in myelin is characteristic of metachromatic leukodystrophy, Krabbe disease, mitochondrial disorders, adrenoleuko …
39 results