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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene in a Polish patient
Affiliations- Department of Medical Education, Jagiellonian University Medical College, Krakow, Poland
- Department of Neurology, 5th Military Clinical Hospital with Polyclinic in Krakow, Poland
- Department of Haematology, Jagiellonian University Medical College, Krakow, Poland
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Abstract
Abstract
Keywords
gene expresion studies, Leukodystrophies
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About this articleTitle
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene in a Polish patient
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
322-324
Published online
2021-02-02
Page views
911
Article views/downloads
702
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2021;55(3):322-324.
Keywords
gene expresion studies
Leukodystrophies
Authors
Kamila Żur-Wyrozumska
Paulina Kaczmarska
Patrycja Mensah-Glanowska
References (7)- Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017; 24(1): 37–45.
- 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.
- Kempthorne L, Yoon H, Madore C, et al. Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. Acta Neuropathol Commun. 2020; 8(1): 72.
- Konno T, Tada M, Tada M, et al. Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology. 2014; 82(2): 139–148.
- Ueda S, Yamashita H, Hikiami R, et al. A novel A792D mutation in the gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression. eNeurologicalSci. 2015; 1(1): 7–9.
- Grabowska W, Kapica-Topczewska K, Kochanowicz J, et al. Współwystępowania choroby Parkinsona i pierwotnie postępującej postaci stwardnienia rozsianego — opis przypadku. Polski Przegląd Neurologiczny. 2020; 16(2): 117–120.
- Milanowski Ł, Wszolek Z. Podejrzenie pierwszego przypadku chorego z leukodystrofią z obecnością sferoidów aksonalnych. Polski Przegląd Neurologiczny. 2020; 16(3): 192–193.
