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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 …
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. ...Six more distant relatives also had a neurological diso …
BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a devastating, heredi …
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. ...ALSP can pose a unique diagnostic challenge given its part …
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare white matter degenerative disease ch …
Machine Learning and Multiparametric Brain MRI to Differentiate Hereditary Diffuse Leukodystrophy with Spheroids from Multiple Sclerosis.
Mangeat G, Ouellette R, Wabartha M, De Leener B, Plattén M, Danylaité Karrenbauer V, Warntjes M, Stikov N, Mainero C, Cohen-Adad J, Granberg T. Mangeat G, et al. J Neuroimaging. 2020 Sep;30(5):674-682. doi: 10.1111/jon.12725. Epub 2020 May 26. J Neuroimaging. 2020. PMID: 32453488 Free article.
BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) and multiple sclerosis (MS) are demyelinating and neurodegenerative disorders that can be hard to distinguish clinically and radiologically. ...RESULTS: Our predict …
BACKGROUND AND PURPOSE: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) and multiple sclerosis (MS) …
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. Clinical presentation of frontotemporal dementia associated …
Some of these kindreds have been diagnosed clinically as familial progressive supranuclear palsy, hereditary diffuse leukoe …
De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Karle KN, Biskup S, Schüle R, Schweitzer KJ, Krüger R, Bauer P, Bender B, Nägele T, Schöls L. Karle KN, et al. Neurology. 2013 Dec 3;81(23):2039-44. doi: 10.1212/01.wnl.0000436945.01023.ac. Epub 2013 Nov 6. Neurology. 2013. PMID: 24198292
OBJECTIVE: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly inherited mutations in the colony stimulating factor 1 receptor (CSF1R) gene, and is clinically characterized by a progressive cognitive an …
OBJECTIVE: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is caused by autosomal-dominantly …
Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy.
Kondo Y, Matsushima A, Nagasaki S, Nakamura K, Sekijima Y, Yoshida K. Kondo Y, et al. Eur J Neurol. 2020 Feb;27(2):369-375. doi: 10.1111/ene.14086. Epub 2019 Oct 15. Eur J Neurol. 2020. PMID: 31520500 Free PMC article.
BACKGROUND AND PURPOSE: The purpose was to identify statistically factors that correlate with the presence of a colony-stimulating factor 1 receptor (CSF1R) mutation and to reevaluate the accuracy of the current diagnostic criteria for CSF1R-related leukoencephalopathy. ME …
BACKGROUND AND PURPOSE: The purpose was to identify statistically factors that correlate with the presence of a colony-stimulating factor 1 …
Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.
Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, Gessler F, Biskup S, Weise L, Steinbach JP, Wagner M, Mittelbronn M, Bähr O. Meyer-Ohlendorf M, et al. BMC Neurol. 2015 Jul 4;15:103. doi: 10.1186/s12883-015-0368-3. BMC Neurol. 2015. PMID: 26141177 Free PMC article.
BACKGROUND: Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. ...CONCLUSION: This case points out at two important features of hereditary diffuse leukodystrophy with spheroids being spotted and …
BACKGROUND: Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. ...CONCLUSIO …
Update of the original HDLS kindred: divergent clinical courses.
Sundal C, Ekholm S, Nordborg C, Jönsson L, Börjesson-Hanson A, Lindén T, Zetterberg H, Viitanen M, Andersen O. Sundal C, et al. Acta Neurol Scand. 2012 Jul;126(1):67-75. doi: 10.1111/j.1600-0404.2011.01624.x. Epub 2011 Nov 18. Acta Neurol Scand. 2012. PMID: 22098561
BACKGROUND: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) was first identified among a Swedish kindred with 17 cases. The average age of onset was 36 years. Autopsy in four cases revealed the presence of axonal spheroids. The caus …
BACKGROUND: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) was first identified among a Swedish ki …
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