A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

Ban Yu Saitoh, Ryo Yamasaki, Shintaro Hayashi, Satoshi Yoshimura, Takahisa Tateishi, Yasumasa Ohyagi, Hiroyuki Murai, Toru Iwaki, Kunihiro Yoshida, Jun Ichi Kira

研究成果: Contribution to journalArticle査読

29 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)1367-1370
ページ数4
ジャーナルMultiple Sclerosis Journal
19
10
DOI
出版ステータス出版済み - 9 2013

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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