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成人起病的伴有轴突球状体和色素性神经胶质细胞的白质脑病：一例报告

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: A case report.

作者信息

Kang Seongsu, Kim Da Mi, Lee In Ho, Song Chang June

机构信息

Department of Radiology, Chungnam National University Hospital, Chungnam National University School of Medicine, 282, Munhwa-ro, Jung-gu, Daejeon 35015, Republic of Korea.

出版信息

Radiol Case Rep. 2019 Feb 18;14(4):514-517. doi: 10.1016/j.radcr.2019.01.021. eCollection 2019 Apr.

DOI:10.1016/j.radcr.2019.01.021
PMID:30834063
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6379521/
Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurodegenerative disorder characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. ALSP is caused by mutations in colony stimulating factor 1 receptor gene. We report an ASLP patient with asymptomatic intracranial calcifications distributed in white matter found incidentally in a health screening.

摘要

成人起病的伴轴突球状体和色素性神经胶质细胞的白质脑病（ALSP）是一种罕见的神经退行性疾病，其特征为脑白质异常、髓鞘丢失和轴突肿胀。ALSP由集落刺激因子1受体基因突变引起。我们报告1例在健康筛查中偶然发现白质有无症状颅内钙化的ALSP患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/42ca534756f1/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/fc313f89d558/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/42ca534756f1/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/fc313f89d558/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7f9a/6379521/42ca534756f1/gr2.jpg

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J Clin Neurosci. 2018 Feb;48:42-49. doi: 10.1016/j.jocn.2017.10.060. Epub 2017 Nov 6.
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Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.CSF1R 突变相关性成人发病脑白质病伴轴索性包涵体和色素性星形胶质细胞病的诊断标准。
Eur J Neurol. 2018 Jan;25(1):142-147. doi: 10.1111/ene.13464. Epub 2017 Oct 19.
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