Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia
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 c...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-11-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51656 |
| _version_ | 1811330154391142400 |
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| author | Stefanie N. Hayer Vidiyaah Santhanakumaran Judith Böhringer Ludger Schöls |
| author_facet | Stefanie N. Hayer Vidiyaah Santhanakumaran Judith Böhringer Ludger Schöls |
| author_sort | Stefanie N. Hayer |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T15:56:18Z |
| format | Article |
| id | doaj.art-744fd915940e470baa8eea167b240ce9 |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-04-13T15:56:18Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-744fd915940e470baa8eea167b240ce92022-12-22T02:40:40ZengWileyAnnals of Clinical and Translational Neurology2328-95032022-11-019111807181210.1002/acn3.51656Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented gliaStefanie N. Hayer0Vidiyaah Santhanakumaran1Judith Böhringer2Ludger Schöls3Hertie‐Institute for Clinical Brain Research & Department of Neurology, University Hospital Tübingen Tübingen GermanyChildren's Hospital, Department of Neuropediatrics University of Tübingen Tübingen GermanyChildren's Hospital, Department of Neuropediatrics University of Tübingen Tübingen GermanyHertie‐Institute for Clinical Brain Research & Department of Neurology, University Hospital Tübingen Tübingen GermanyAbstract 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.https://doi.org/10.1002/acn3.51656 |
| spellingShingle | Stefanie N. Hayer Vidiyaah Santhanakumaran Judith Böhringer Ludger Schöls Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia Annals of Clinical and Translational Neurology |
| title | Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia |
| title_full | Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia |
| title_fullStr | Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia |
| title_full_unstemmed | Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia |
| title_short | Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia |
| title_sort | chitotriosidase is a biomarker for adult onset leukoencephalopathy with axonal spheroids and pigmented glia |
| url | https://doi.org/10.1002/acn3.51656 |
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