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Page 1
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal sphero …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, met …
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 …
The Primary Microglial Leukodystrophies: A Review.
Ferrer I. Ferrer I. Int J Mol Sci. 2022 Jun 6;23(11):6341. doi: 10.3390/ijms23116341. Int J Mol Sci. 2022. PMID: 35683020 Free PMC article. Review.
Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroid …
Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary …
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.
Stabile C, Taglia I, Battisti C, Bianchi S, Federico A. Stabile C, et al. Neurol Sci. 2016 Sep;37(9):1565-9. doi: 10.1007/s10072-016-2634-6. Epub 2016 Jun 23. Neurol Sci. 2016. PMID: 27338940 Review.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). ...
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized …
Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.
Mickeviciute GC, Valiuskyte M, Plattén M, Wszolek ZK, Andersen O, Danylaité Karrenbauer V, Ineichen BV, Granberg T. Mickeviciute GC, et al. J Intern Med. 2022 Mar;291(3):269-282. doi: 10.1111/joim.13420. Epub 2021 Dec 22. J Intern Med. 2022. PMID: 34875121 Free article. Review.
The search included cases with confirmed CSF1R mutations reported under the previous terms hereditary diffuse leukoencephalopathy with spheroids, pigmentary orthochromatic leukodystrophy, and adult-onset leukoencephalopathy with axonal sphero …
The search included cases with confirmed CSF1R mutations reported under the previous terms hereditary diffuse leukoencephal …
Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.
Tokumaru AM, Saito Y, Murayma S. Tokumaru AM, et al. Magn Reson Imaging Clin N Am. 2021 May;29(2):163-183. doi: 10.1016/j.mric.2021.02.001. Magn Reson Imaging Clin N Am. 2021. PMID: 33902901 Review.
This article reviews diseases for which persistent signal abnormalities on diffusion-weighted imaging are the key to their diagnosis. Specifically, updated knowledge regarding the neuroimaging patterns of the following diseases is summarized: sporadic Creutzfeldt-Jakob dis …
This article reviews diseases for which persistent signal abnormalities on diffusion-weighted imaging are the key to their diagnosis. …
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.
Giau VV, Bagyinszky E, Youn YC, An SSA, Kim SY. Giau VV, et al. Int J Mol Sci. 2019 Sep 3;20(17):4298. doi: 10.3390/ijms20174298. Int J Mol Sci. 2019. PMID: 31484286 Free PMC article. Review.
Neuroimaging and molecular genetic tests could improve diagnostic accuracy in patients with potential SVD. Several types of monogenic, hereditary cerebral SVD have been identified: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopat …
Neuroimaging and molecular genetic tests could improve diagnostic accuracy in patients with potential SVD. Several types of monogenic, he …
Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.
Kleinfeld K, Mobley B, Hedera P, Wegner A, Sriram S, Pawate S. Kleinfeld K, et al. J Neurol. 2013 Feb;260(2):558-71. doi: 10.1007/s00415-012-6680-6. Epub 2012 Sep 30. J Neurol. 2013. PMID: 23052599 Review.
The objective of this work is to report on a series of five patients with adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia (ALSP). ALSP is a rare adult-onset leukodystrophy, which encompasses hereditary diffuse leukoence …
The objective of this work is to report on a series of five patients with adult-onset leukoencephalopathy with neuroaxonal spheroi …
Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism.
Fujioka S, Wszolek ZK. Fujioka S, et al. J Mol Neurosci. 2011 Nov;45(3):359-65. doi: 10.1007/s12031-011-9568-5. Epub 2011 Jun 8. J Mol Neurosci. 2011. PMID: 21656039 Free PMC article. Review.
Some of these kindreds have been diagnosed clinically as familial progressive supranuclear palsy, hereditary diffuse leukoencephalopathy with axonal spheroids, "overlap" syndrome, and others. ...
Some of these kindreds have been diagnosed clinically as familial progressive supranuclear palsy, hereditary diffuse leukoe …