Progression of cortical dysfunction in CSF1R‐related leukoencephalopathy detected using single‐photon emission computed tomography

Background: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease progressively affecting cognitive and motor functions, most often caused by mutations in the colony-stimulating factor 1 receptor gene (CSF1R). / Aim: To elucidate the mechanism of disease progression, changes in white matter lesions and cortical cerebral blood flow (CBF) were evaluated in cases during various stages of the disease. ...