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;55(3):322-324. doi: 10.5603/PJNNS.a2021.0012. Epub 2021 Feb 2.

Authors

Kamila Żur-Wyrozumska^{1

2}, Paulina Kaczmarska³, Patrycja Mensah-Glanowska⁴

Affiliations

¹ Department of Medical Education, Jagiellonian University Medical College, Krakow, Poland. kamila.zur-wyrozumska@uj.edu.pl.
² Department of Neurology, 5th Military Clinical Hospital with Polyclinic in Krakow, Poland. kamila.zur-wyrozumska@uj.edu.pl.
³ Department of Neurology, 5th Military Clinical Hospital with Polyclinic in Krakow, Poland.
⁴ Department of Haematology, Jagiellonian University Medical College, Krakow, Poland.

PMID: 33528831
DOI: 10.5603/PJNNS.a2021.0012

No abstract available

Keywords: Leukodystrophies; gene expresion studies.

Publication types

Case Reports

MeSH terms

Adult
Humans
Leukoencephalopathies* / genetics
Mutation
Neuroglia
Poland
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor / genetics*

Substances

CSF1R protein, human
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor