CSF1R-related leukoencephalopathy: from hereditary diffuse leukoencephalopathy with spheroids to primary microgliopathy
WEI Yan-qiu1, XU Jun2, LIU Ruo-xi3, LI Lin3, DONG Zhen4
1 Grade 2017, Graduate School, Dalian Medical University, Dalian 116044, Liaoning, China;
2 Department of Cognitive Neurology, Neurology Center, Beijing Tiantan Hospital, Capital Medical University;China National Clinical Research Center for Neurological Diseases, Beijing 100050, China;
3 Department of Neurology, North Jiangsu People's Hospital, Yangzhou 225001, Jiangsu, China;
4 Grade 2017, Graduate School, Yangzhou University Clinical Medical College, Yangzhou 225001, Jiangsu, China
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.
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