WebDec 2, 2024 · CSF1R-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (CSF1R) gene mutation. Few of CSF1R mutations have been functionally … WebNov 18, 2024 · The CSF1R gene includes 24 exons and encodes for the CSF1R protein, which contains 972 amino acid residues . Until now, more than 60 CSF1R mutations, including missense mutations, point mutations, frameshift mutations, and splicing mutations, have been identified as the genetic cause of HDLS .
CSF1R mutations in hereditary diffuse …
WebNov 15, 2024 · Colony-stimulating factor 1 receptor (CSF1R) is a product of the proto-oncogene c-fms and belongs to the class III transmembrane tyrosine kinase receptor … WebDec 2, 2024 · CSF1R-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy … biotechnology times
Functional characterization of a novel CSF1R mutation causing ...
WebDec 11, 2024 · Since the discovery of CSF1R gene mutations in families with hereditary diffuse leukoencephalopathy with spheroids in 2012, more than 70 different mutations have been identified around the world. Through the analyses of mutation carriers, CSF1R-related leukoencephalopathy has been distinctly characterized clinically, radiologically, and … WebMar 29, 2024 · CSF1R. colony stimulating factor 1 receptor. Gene ID: 1436, updated on 7-Feb-2024. Gene type: protein coding. Also known as: FMS; CSFR; FIM2; HDLS; C … WebAug 30, 2012 · Clinical characteristics. CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures.A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and … biotechnology top colleges in india