Recent advances of study on hereditary diffuse leukoencephalopathy with spheroids.
10.3760/cma.j.issn.1003-9406.2014.03.016
- Author:
Xinxin CHENG
1
;
Jun XU
Author Information
1. The Fourth School Clinical Medicine, Nanjing Medical University, Nanjing, Jiangsu 210029 P.R. China. Emailneurojun@126.com.
- Publication Type:Journal Article
- MeSH:
Brain;
diagnostic imaging;
Humans;
Leukoencephalopathies;
diagnosis;
diagnostic imaging;
genetics;
physiopathology;
Radiography;
Spheroids, Cellular;
cytology
- From:
Chinese Journal of Medical Genetics
2014;31(3):330-333
- CountryChina
- Language:Chinese
-
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.
