open access
Vol 55, No 3 (2021)
Invited Editorial
Submitted: 2021-03-05
Published online: 2021-03-05
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First Polish case of CSF1R-related leukoencephalopathy
1
Affiliations- Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, United States
open access
Vol 55, No 3 (2021)
Invited editorials
Submitted: 2021-03-05
Published online: 2021-03-05
Abstract
Not available
Abstract
Not available
Get Citation
About this articleTitle
First Polish case of CSF1R-related leukoencephalopathy
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Invited Editorial
Pages
239-240
Published online
2021-03-05
Page views
796
Article views/downloads
650
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2021;55(3):239-240.
Authors
Zbigniew K. Wszolek
References (12)- Żur-Wyrozumska K, Kaczmarska P, Mensah-Glanowska P. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene in a Polish patient. Neurol Neurochir Pol. 2021 [Epub ahead of print].
- Rademakers R, Baker M, Nicholson AM, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011; 44(2): 200–205.
- Konno T, Kasanuki K, Ikeuchi T, et al. -related leukoencephalopathy: A major player in primary microgliopathies. Neurology. 2018; 91(24): 1092–1104.
- Kempthorne L, Yoon H, Madore C, et al. Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. Acta Neuropathol Commun. 2020; 8(1): 72.
- Van Bo, Nyssen R. Le type tardif de la leukodystrophie progressive familiale. Rev Neurol. 1936; 65: 21–45.
- Marotti JD, Tobias S, Fratkin JD, et al. Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol. 2004; 107(6): 481–488.
- Baba Y, Ghetti B, Baker MC, et al. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol. 2006; 111(4): 300–311.
- Axelsson R, Röyttä M, Sourander P, et al. Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatr Scand Suppl. 1984; 314: 1–65.
- Sundal C, Carmona S, Yhr M, et al. An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. Acta Neuropathol Commun. 2019; 7(1): 188.
- Nicholson AM, Baker MC, Finch NA, et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 2013; 80(11): 1033–1040.
- Wider C, Van Gerpen JA, DeArmond S, et al. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology. 2009; 72(22): 1953–1959.
- Tipton PW, Stanley ER, Chitu V, et al. Is Pre-Symptomatic Immunosuppression Protective in CSF1R-Related Leukoencephalopathy? Mov Disord. 2021 [Epub ahead of print].
