CSF1R ⁃ related leukoencephalopathy: from hereditary diffuse leukoencephalopathy with spheroids to primary microgliopathy

• Main Authors: Yan⁃qiu WEI, Jun XU, Ruo⁃xi LIU, Lin LI, Zhen DONG
• Format: Article
• Language: English
• Published: Tianjin Huanhu Hospital 2020-01-01
• Series: Chinese Journal of Contemporary Neurology and Neurosurgery
• Subjects: leukoencephalopathies; receptor, macrophage colony-stimulating factor; microglia; review
• Online Access: http://www.cjcnn.org/index.php/cjcnn/article/view/2078

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant hereditary leukoencephalopathy. Progressive neuropsychiatric symptoms and motor disorders are the main clinical manifestations, and women appear earlier than men. In imaging, diffusing white matter damage, thinning of the corpus callosum and brain calcification are characteristic changes. Primary axonal degeneration and absence of myelin sheath are characteristic histopathological changes. Colony stimulating factor 1 receptor (CSF1R) is the only pathogenic gene of HDLS currently. Since CSF1R is mainly expressed in microglia, CSF1R⁃related leukoencephalopathy can be regarded as a representative of primary microgliopathy, and microglia play a key role in the pathogenesis of this disease. In this review, we discuss the current progress of CSF1R⁃related leukoencephalopathy, and reveal the possible pathophysiological role of microglia, as well as future research directions. DOI：10.3969/j.issn.1672⁃6731.2020.01.005