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A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy

      CSF1R-related leukoencephalopathy (CSF1RL) is an autosomal dominant neurodegenerative disease caused by mutations in the colony stimulating factor 1 receptor gene (CSF1R). CSF1RL is also referred to as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). ALSP is a pathological diagnosis while CSF1RL indicates genetically-confirmed disease. Although more than 100 CSF1R pathological variants have been reported, few CSF1R variant kindreds have been extensively phenotyped [
      • Papapetropoulos S.
      • Pontius A.
      • Finger E.
      • Karrenbauer V.
      • Lynch D.S.
      • Brennan M.
      • Zappia S.
      • Koehler W.
      • Schoels L.
      • Hayer S.N.
      • Konno T.
      • Ikeuchi T.
      • Lund T.
      • Orthmann-Murphy J.
      • Eichler F.
      • Wszolek Z.K.
      Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: Review of clinical manifestations as foundations for therapeutic development.
      ,
      • Wszolek Z.K.
      First Polish case of CSF1R-related leukoencephalopathy.
      ]. Clinical characterization is critical to better understand the natural history of disease, phenotypic heterogeneity, and mutation-specific phenotypic-elements. Herein, we characterize the clinical, radiographic, and histopathologic features of a novel CSF1R variant identified in multiple members of a South Dakota family of Scandinavian/European descent.

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