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: ジャーナルへの寄稿記事

26 引用 (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.

元の言語英語
ページ(範囲)1367-1370
ページ数4
ジャーナルMultiple Sclerosis Journal
19
発行部数10
DOI
出版物ステータス出版済み - 9 2013

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Colony-Stimulating Factor Receptors
Chronic Progressive Multiple Sclerosis
Macrophage Colony-Stimulating Factor
Neurologic Gait Disorders
Dysarthria
Mutation
Brain
Macrophages
Magnetic Resonance Imaging
T-Lymphocytes
Biopsy
White Matter
Hereditary Diffuse Leukoencephalopathy with Spheroids

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

これを引用

A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. / Saitoh, Ban Yu; Yamasaki, Ryo; Hayashi, Shintaro; Yoshimura, Satoshi; Tateishi, Takahisa; Ohyagi, Yasumasa; Murai, Hiroyuki; Iwaki, Toru; Yoshida, Kunihiro; Kira, Jun Ichi.

:: Multiple Sclerosis Journal, 巻 19, 番号 10, 09.2013, p. 1367-1370.

研究成果: ジャーナルへの寄稿記事

Saitoh, Ban Yu ; Yamasaki, Ryo ; Hayashi, Shintaro ; Yoshimura, Satoshi ; Tateishi, Takahisa ; Ohyagi, Yasumasa ; Murai, Hiroyuki ; Iwaki, Toru ; Yoshida, Kunihiro ; Kira, Jun Ichi. / A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. :: Multiple Sclerosis Journal. 2013 ; 巻 19, 番号 10. pp. 1367-1370.
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abstract = "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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T1 - A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis

AU - Saitoh, Ban Yu

AU - Yamasaki, Ryo

AU - Hayashi, Shintaro

AU - Yoshimura, Satoshi

AU - Tateishi, Takahisa

AU - Ohyagi, Yasumasa

AU - Murai, Hiroyuki

AU - Iwaki, Toru

AU - Yoshida, Kunihiro

AU - Kira, Jun Ichi

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