A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis-Reference-Cited by-同舟云学术

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

Published:2013-05-22 Issue:10 Volume:19 Page:1367-1370
ISSN:1352-4585
Container-title:Multiple Sclerosis Journal
language:en
Short-container-title:Mult Scler

Author:

Saitoh Ban-yu¹,Yamasaki Ryo²,Hayashi Shintaro¹,Yoshimura Satoshi¹,Tateishi Takahisa¹,Ohyagi Yasumasa²,Murai Hiroyuki¹,Iwaki Toru³,Yoshida Kunihiro⁴,Kira Jun-ichi¹

Affiliation:

1. Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

2. Department of Neurological Therapeutics, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

3. Department of Neuropathology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Japan

4. Department of Brain Disease Research, Shinshu University School of Medicine, Japan

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Neurology

Link

http://journals.sagepub.com/doi/pdf/10.1177/1352458513489854

Reference10 articles.

1. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

2. Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS

3. Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study

4. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Can Present as Frontotemporal Dementia Syndrome

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