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@ARTICLE{Schmitz:271969,
      author       = {Schmitz, Anne S and Raju, Janani and Köhler, Wolfgang and
                      Klebe, Stephan and Cheheb, Khaled and Reschke, Franziska and
                      Biskup, Saskia and Haack, Tobias B and Röben, Benjamin and
                      Kellner, Melanie and Rahner, Nils and Bloch, Thomas and
                      Lemke, Johannes and Bender, Benjamin and Schöls, Ludger and
                      Hengel, Holger and Hayer, Stefanie},
      title        = {{N}ovel variants in {CSF}1{R} associated with adult-onset
                      leukoencephalopathy with axonal spheroids and pigmented glia
                      ({ALSP}).},
      journal      = {Journal of neurology},
      volume       = {271},
      number       = {9},
      issn         = {0367-004X},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DZNE-2024-01111},
      pages        = {6025 - 6037},
      year         = {2024},
      abstract     = {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 aimed to broaden the genetic basis of ALSP by
                      identifying novel CSF1R variants in patients with
                      characteristic clinical and imaging features of ALSP.
                      Genetic analysis was performed through whole-exome
                      sequencing or panel analysis for leukodystrophy genes.
                      Variant annotation and classification were conducted using
                      computational tools, and the identified variants were
                      categorized following the recommendations of the American
                      College of Medical Genetics and Genomics (ACMG). To assess
                      the evolutionary conservation of the novel variants within
                      the CSF1R protein, amino acid sequences were compared across
                      different species. The study identified six previously
                      unreported CSF1R variants (c.2384G>T, $c.2133_2919del,$
                      c.1837G>A, c.2304C>A, c.2517G>T, c.2642C>T) in seven
                      patients with ALSP, contributing to the expanding knowledge
                      of the genetic diversity underlying this rare disease. The
                      analysis revealed considerable genetic and clinical
                      heterogeneity among these patients. The findings emphasize
                      the need for a comprehensive understanding of the genetic
                      basis of rare diseases like ALSP and underscored the
                      importance of genetic testing, even in cases with no family
                      history of the disease. The study's contribution to the
                      growing spectrum of ALSP genetics and phenotypes enhances
                      our knowledge of this condition, which can be crucial for
                      both diagnosis and potential future treatments.},
      keywords     = {Humans / Female / Leukoencephalopathies: genetics /
                      Leukoencephalopathies: pathology / Male / Receptors,
                      Granulocyte-Macrophage Colony-Stimulating Factor: genetics /
                      Adult / Middle Aged / Mutation / Neuroglia: pathology / Aged
                      / Receptor, Macrophage Colony-Stimulating Factor / ALSP
                      (Other) / CSF1R (Other) / CSF1R-related leukoencephalopathy
                      (Other) / Genetic diagnostics (Other) / CSF1R protein, human
                      (NLM Chemicals) / Receptors, Granulocyte-Macrophage
                      Colony-Stimulating Factor (NLM Chemicals) / Receptor,
                      Macrophage Colony-Stimulating Factor (NLM Chemicals)},
      cin          = {AG Jucker / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210001 / I:(DE-2719)5000005},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
                      Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC11377666},
      pubmed       = {pmid:39031193},
      doi          = {10.1007/s00415-024-12557-0},
      url          = {https://pub.dzne.de/record/271969},
}