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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 …
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, Palacín M, Nunes V. Estévez R, et al. Eur J Med Genet. 2018 Jan;61(1):50-60. doi: 10.1016/j.ejmg.2017.10.013. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079544 Free article. Review.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by dysfunction of the role of glial cells in controlling brain fluid and ion homeostasis. ...MLC is caused by mutations in the MLC1 a …
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy charact …
Leukoencephalopathies associated with macrocephaly.
Renaud DL. Renaud DL. Semin Neurol. 2012 Feb;32(1):34-41. doi: 10.1055/s-0032-1306384. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422204 Review.
When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be considered, including Alexander's disease, Canavan's disease, childhood ataxia with central hypomyelination/ vanishing white matter disease (CACH/ …
When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be consid …
Clinico-radiological spectrum of bilateral temporal lobe hyperintensity: a retrospective review.
Sureka J, Jakkani RK. Sureka J, et al. Br J Radiol. 2012 Sep;85(1017):e782-92. doi: 10.1259/bjr/30039090. Epub 2012 Mar 14. Br J Radiol. 2012. PMID: 22422381 Free PMC article. Review.
We found BTH in different clinical scenarios that included infective diseases (herpes simplex virus, congenital cytomegalovirus infection), epileptic syndrome (mesial temporal sclerosis), neurodegenerative disorders (Alzheimer's disease, frontotemporal dementia, Type 1 myo …
We found BTH in different clinical scenarios that included infective diseases (herpes simplex virus, congenital cytomegalovirus infection), …
Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.
Krishna SH, McKinney AM, Lucato LT. Krishna SH, et al. Semin Ultrasound CT MR. 2014 Apr;35(2):160-91. doi: 10.1053/j.sult.2013.10.008. Epub 2013 Oct 23. Semin Ultrasound CT MR. 2014. PMID: 24745891 Review.
The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorders (including metachromatic leukodystrophy, Krabbe or globoid cell leukodystrophy, Fabry, Niemann-Pick, GM1, GM2, Gaucher, mucopolysaccharid …
The general classes of disorders covered in this complex review are: peroxisomal disorders (adrenoleukodystrophy), lysosomal storage disorde …
Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases.
Nunes RH, Pacheco FT, da Rocha AJ. Nunes RH, et al. Neuroradiology. 2014 Jul;56(7):569-77. doi: 10.1007/s00234-014-1356-9. Epub 2014 Apr 23. Neuroradiology. 2014. PMID: 24756164 Review.
Our series included five patients with congenital muscular dystrophy (05/23=21.7 %), six with megalencephalic leukoencephalopathy with subcortical cysts (06/23=26.1 %), three with non-megalencephalic leukoencephalopathy w …
Our series included five patients with congenital muscular dystrophy (05/23=21.7 %), six with megalencephalic leukoencephalopathy …