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弥散加权成像对诊断特定疾病至关重要。

Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.

机构信息

Department of Diagnostic Radiology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan.

Brain Bank for Aging Research, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo 173-0015, Japan.

出版信息

Magn Reson Imaging Clin N Am. 2021 May;29(2):163-183. doi: 10.1016/j.mric.2021.02.001.

DOI:10.1016/j.mric.2021.02.001
PMID:33902901
Abstract

This article reviews diseases for which persistent signal abnormalities on diffusion-weighted imaging are the key to their diagnosis. Specifically, updated knowledge regarding the neuroimaging patterns of the following diseases is summarized: sporadic Creutzfeldt-Jakob disease, neuronal intranuclear inclusion disease, and hereditary diffuse leukoencephalopathy with axonal spheroids-colony-stimulating factor receptors/adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In addition, their differential diagnoses; clinical manifestations; and pathologic, genetic, and imaging correlates are discussed.

摘要

本文综述了在弥散加权成像上存在持续信号异常的疾病,这些异常是其诊断的关键。具体而言,总结了以下疾病的神经影像学模式的最新知识:散发性克雅氏病、神经元核内包涵体病和伴有轴索性球体的遗传性弥漫性白质脑病伴轴索性球体和色素性神经胶质、集落刺激因子受体/伴有轴索性球体和色素性神经胶质的成人发病型白质脑病。此外,还讨论了它们的鉴别诊断、临床表现以及病理、遗传和影像学相关性。

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Diffusion-Weighted Imaging is Key to Diagnosing Specific Diseases.弥散加权成像对诊断特定疾病至关重要。
Magn Reson Imaging Clin N Am. 2021 May;29(2):163-183. doi: 10.1016/j.mric.2021.02.001.
2
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。
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Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.与CSF1R突变相关的伴轴突 spheroids 和色素性神经胶质细胞的成人起病性白质脑病的临床和遗传学特征
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Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.遗传性脑白质海绵状变性患者的 DWI 持续进展。
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Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.患者白质异常,集落刺激因子 1 受体部分功能丧失。
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Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.成人起病伴神经轴索性球体和色素性神经胶质的脑白质病:5 例报告和一个新突变。
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White matter involvement in sporadic Creutzfeldt-Jakob disease.散发性克雅氏病的白质受累。
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).伴有轴突球体和色素性神经胶质细胞的成人起病性白质脑病(ALSP):整合关于遗传性弥漫性白质脑病伴球体(HDLS)和色素性正染性脑白质营养不良(POLD)的文献。
J Clin Neurosci. 2018 Feb;48:42-49. doi: 10.1016/j.jocn.2017.10.060. Epub 2017 Nov 6.

引用本文的文献

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The Importance of Long-term Partner Observation in Cognitive Evaluation: A Very Early Creutzfeldt-Jakob Disease in a Patient with Mild Cognitive Impairment.长期伴侣观察在认知评估中的重要性:轻度认知障碍患者的极早期克雅氏病。
Curr Alzheimer Res. 2024;21(3):214-218. doi: 10.2174/0115672050309694240708052535.
2
Case report: Two siblings with neuronal intranuclear inclusion disease exhibiting distinct clinicoradiological findings.病例报告:两名患有神经元核内包涵体病的兄弟姐妹表现出不同的临床放射学特征。
Front Neurol. 2022 Oct 25;13:1013213. doi: 10.3389/fneur.2022.1013213. eCollection 2022.
3
Clinical and mechanism advances of neuronal intranuclear inclusion disease.
神经元核内包涵体病的临床与机制进展
Front Aging Neurosci. 2022 Sep 13;14:934725. doi: 10.3389/fnagi.2022.934725. eCollection 2022.
4
Two Novel Intronic Mutations in the Gene in Two Families With CSF1R-Microglial Encephalopathy.两个患有CSF1R-小胶质细胞性脑病的家族中该基因的两个新型内含子突变。
Front Cell Dev Biol. 2022 May 24;10:902067. doi: 10.3389/fcell.2022.902067. eCollection 2022.
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Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.深入了解集落刺激因子1受体(CSF1R)在中枢神经系统和神经疾病中的作用
Front Aging Neurosci. 2021 Nov 15;13:789834. doi: 10.3389/fnagi.2021.789834. eCollection 2021.