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

doi:10.1177/1352458513489854

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

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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.

Original language	English
Pages (from-to)	1367-1370
Number of pages	4
Journal	Multiple Sclerosis Journal
Volume	19
Issue number	10
DOIs	https://doi.org/10.1177/1352458513489854
Publication status	Published - Sept 2013

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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Saitoh, B. Y., Yamasaki, R., Hayashi, S., Yoshimura, S., Tateishi, T., Ohyagi, Y., Murai, H., Iwaki, T., Yoshida, K., & Kira, J. I. (2013). 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, 19(10), 1367-1370. https://doi.org/10.1177/1352458513489854

Saitoh, BY, Yamasaki, R, Hayashi, S, Yoshimura, S, Tateishi, T, Ohyagi, Y, Murai, H, Iwaki, T, Yoshida, K & Kira, JI 2013, '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, vol. 19, no. 10, pp. 1367-1370. https://doi.org/10.1177/1352458513489854

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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.",

author = "Saitoh, {Ban Yu} and Ryo Yamasaki and Shintaro Hayashi and Satoshi Yoshimura and Takahisa Tateishi and Yasumasa Ohyagi and Hiroyuki Murai and Toru Iwaki and Kunihiro Yoshida and Kira, {Jun Ichi}",

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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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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.

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

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