title: [Recent advances of study on hereditary diffuse leukoencephalopathy with spheroids].
abstract: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare autosomal dominant leukoencephalopathy disease, and colony stimulating factor 1 receptor (CSF1R) is the only gene in which mutations are known to cause HDLS. HDLS should be suspected in individuals with progressive neurological decline, characteristic MR imaging findings, and positive family history. This article reviews recent advance in imaging findings, clinical manifestations, genetic counseling and management in HDLS.
authors.affiliation: The Fourth School Clinical Medicine, Nanjing Medical University, Nanjing, Jiangsu 210029 P.R. China. Emailneurojun@126.com.
authors.forename: Xinxin
authors.initials: X
authors.lastname: Cheng
authors.forename: Jun
authors.initials: J
authors.lastname: Xu
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D011859:Radiography; D018874:Spheroids, Cellular / Q000166:cytology