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Quoted phrase not found in phrase index: "Leukoencephalopathy, hereditary diffuse, with spheroids 2"
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 …
Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Sundal C, et al. Eur J Neurol. 2015 Feb;22(2):328-333. doi: 10.1111/ene.12572. Epub 2014 Oct 13. Eur J Neurol. 2015. PMID: 25311247 Free PMC article.
BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, hereditary white matter (WM) disorder with heterogeneous neuropsychiatric features. ...
BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, heredi …
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 …
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. …
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 …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Clinical and imaging characteristics.
Makary MS, Awan U, Kisanuki YY, Slone HW. Makary MS, et al. Neuroradiol J. 2019 Apr;32(2):139-142. doi: 10.1177/1971400918822136. Epub 2019 Jan 7. Neuroradiol J. 2019. PMID: 30614382 Free PMC article.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease characterized by both axonal and glial injury due to a defect in the CSF1R gene. ...Characteristic magnetic resonance imaging findings for ALS …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease ch …
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 …
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Rademakers R, et al. Nat Genet. 2011 Dec 25;44(2):200-5. doi: 10.1038/ng.1027. Nat Genet. 2011. PMID: 22197934 Free PMC article.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and behavioral changes, dementia, depression, parkinsonism, se …
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system whi …
Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.
Stoiloudis P, Parissis D, Smyrni N, Stardeli T, Afrantou T, Konstantinopoulou E, Grigoriadis N, Ioannidis P. Stoiloudis P, et al. Neurol Sci. 2021 Aug;42(8):3431-3433. doi: 10.1007/s10072-021-05257-4. Epub 2021 Apr 18. Neurol Sci. 2021. PMID: 33866445
INTRODUCTION: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. ...DISCUSSION: PPA-like patterns may rarely develop in …
INTRODUCTION: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, cau …
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