Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP

Abstract CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). The former is increasingly recognized, and disease-modifying ther...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Jarosław Dulski, Josiane Souza, Mara Lúcia Santos, Zbigniew K. Wszolek
Format:	Article
Language:	English
Published:	BMC 2023-06-01
Subjects:	CSF1R Microglia Leukoencephalopathy Axonal spheroids
Online Access:	https://doi.org/10.1186/s13023-023-02772-9