期刊
MULTIPLE SCLEROSIS JOURNAL
卷 19, 期 10, 页码 1367-1370出版社
SAGE PUBLICATIONS LTD
DOI: 10.1177/1352458513489854
关键词
Leukoencephalopathy; CSF1R; spheroid; multiple sclerosis; demyelination; microglia; T cell
资金
- Ministry of Health, Labour and Welfare, Japan
- Ministry of Education, Culture, Sports, Science and Technology, Japan
We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor (CSF1R) sequencing. A 28-year-old woman developed progressive spastic gait and dysarthria. Brain T2/FLAIR-weighted magnetic resonance imaging showed bilateral high signal intensity lesions in the parietal deep white matter, which subsequently extended anteriorly. Biopsied brain specimens demonstrated demyelinated white matter tissue with axonal spheroids infiltrated with foamy macrophages, and CD8(+) and CD4(+) T cells. She had a heterozygous mutation, c.2381T>C (p.782 Ile>Thr), in CSF1R. This is the first genetically proven case of HDLS mimicking primary progressive multiple sclerosis.
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