{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(11)"],"submitter":["Hayer SN"],"pubmed_abstract":["Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) leads to rapidly progressive dementia and is caused by mutations in the gene CSF1R. Neurodegeneration is driven by dysfunction of microglia, the predominant cell type expressing CSF1R in the brain. We assessed chitotriosidase, an enzyme secreted by microglia, in serum and cerebrospinal fluid of patients with ALSP. Chitotriosidase activity was highly increased in cerebrospinal fluid of patients and correlated inversely with disease duration. Of interest, presymptomatic CSF1R mutation carriers did not show elevated chitotriosidase levels. This makes chitotriosidase a promising new biomarker of disease activity for this rare disease."],"journal":["Annals of clinical and translational neurology"],"pagination":["1807-1812"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9639634"],"repository":["biostudies-literature"],"pubmed_title":["Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia."],"pmcid":["PMC9639634"],"pubmed_authors":["Santhanakumaran V","Hayer SN","Schols L","Bohringer J"],"additional_accession":[]},"is_claimable":false,"name":"Chitotriosidase is a biomarker for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.","description":"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) leads to rapidly progressive dementia and is caused by mutations in the gene CSF1R. Neurodegeneration is driven by dysfunction of microglia, the predominant cell type expressing CSF1R in the brain. We assessed chitotriosidase, an enzyme secreted by microglia, in serum and cerebrospinal fluid of patients with ALSP. Chitotriosidase activity was highly increased in cerebrospinal fluid of patients and correlated inversely with disease duration. Of interest, presymptomatic CSF1R mutation carriers did not show elevated chitotriosidase levels. This makes chitotriosidase a promising new biomarker of disease activity for this rare disease.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-04T19:27:40.764Z","creation":"2025-04-04T19:27:40.764Z"},"accession":"S-EPMC9639634","cross_references":{"pubmed":["36271674"],"doi":["10.1002/acn3.51656"]}}