Article
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Journal of neurology - 1 Sept 2024
Schmitz Anne S, Raju Janani, Köhler Wolfgang, Klebe Stephan, Cheheb Khaled, Reschke Franziska, Biskup Saskia, Haack Tobias B, Roeben Benjamin, Kellner Melanie, Rahner Nils, Bloch Thomas, Lemke Johannes, Bender Benjamin, Schöls Ludger, Hengel Holger, Hayer Stefanie N
Abstract excerpt
The CSF1R gene, located on chromosome 5, encodes a 108 kDa protein and plays a critical role in regulating myeloid cell function. Mutations in CSF1R have been identified as a cause of a rare white matter disease called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP, also known as CSF1R-related leukoencephalopathy), characterized by progressive neurological dysfunction. This study...
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