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Article

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

Orphanet journal of rare diseases - 22 Jun 2023

Dulski Jarosław, Souza Josiane, Santos Mara Lúcia, Wszolek Zbigniew K

Abstract excerpt

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 therapy was introduced; however, literature is scarce on the latter. This review analyzes BANDDOS and discusses similarities and...

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Identifiers

PMID: 37349768
DOI: 10.1186/s13023-023-02772-9
PMCID: PMC10288773

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