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 |
| 巻 | 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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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
}
TY - JOUR
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
PY - 2013/9
Y1 - 2013/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84883323521&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84883323521&partnerID=8YFLogxK
U2 - 10.1177/1352458513489854
DO - 10.1177/1352458513489854
M3 - Article
C2 - 23698128
AN - SCOPUS:84883323521
VL - 19
SP - 1367
EP - 1370
JO - Multiple Sclerosis
JF - Multiple Sclerosis
SN - 1352-4585
IS - 10
ER -