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晚发性遗传性脑白质病的特征性弥散加权成像特征。

Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.

机构信息

Department of Radiology, AZ Maria Middelares, Buitenring Sint-Denijs 30, 9000, Ghent, Belgium.

Department of Radiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

出版信息

Neuroradiology. 2021 Jan;63(1):153-156. doi: 10.1007/s00234-020-02543-4. Epub 2020 Sep 3.

DOI:10.1007/s00234-020-02543-4
PMID:32879996
Abstract

Genetic leukoencephalopathies are inherited disorders characterized by progressive white matter involvement. Although most are paediatric conditions, late-onset adult leukoencephalopathies are being increasingly recognized. Adult leukoencephalopathies may present as neurodegenerative diseases with cognitive decline and motor symptoms. Similar to their paediatric counterparts, different adult leukoencephalopathies often have distinctive MRI appearances. In particular, DWI has been recently shown to demonstrate specific patterns of persistent diffusion restriction in several adult-onset leukoencephalopathies. As such, DWI may provide important clues to the diagnosis of adult-onset leukoencephalopathy. The purpose of this review is to discuss characteristic DWI features in some late-onset leukoencephalopathies.

摘要

遗传性脑白质病是一种以进行性白质受累为特征的遗传性疾病。尽管大多数是儿科疾病,但越来越多的成年人脑白质病也被认识到。成人脑白质病可能表现为神经退行性疾病,伴有认知功能下降和运动症状。与儿科患者类似,不同的成人脑白质病通常具有不同的 MRI 表现。特别是,DWI 最近显示,在几种成人起病的脑白质病中存在特定的持续弥散受限模式。因此,DWI 可能为成人起病的脑白质病的诊断提供重要线索。本综述的目的是讨论一些迟发性脑白质病的 DWI 特征。

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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.神经元核内包涵体病、眼咽远端肌病和重叠疾病中的非编码 CGG 重复扩展。
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Persistent Diffusion-weighted Imaging Abnormalities in Adult Leukodystrophies.成人脑白质营养不良中持续存在的扩散加权成像异常
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AJNR Am J Neuroradiol. 2018 Sep;39(9):1657-1661. doi: 10.3174/ajnr.A5744. Epub 2018 Aug 16.
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Adulthood leukodystrophies.成人脑白质营养不良
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MR Imaging Features of the Cerebellum in Adult-Onset Neuronal Intranuclear Inclusion Disease: 8 Cases.成人发病的神经元核内包涵体病的脑磁共振成像特征:8 例报告。
AJNR Am J Neuroradiol. 2017 Nov;38(11):2100-2104. doi: 10.3174/ajnr.A5336. Epub 2017 Aug 17.
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Redefining the phenotype of ALSP and mutation-related leukodystrophy.重新定义肾上腺脑白质营养不良和突变相关脑白质营养不良的表型。
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