Purpose: Due to the variety of clinical symptoms that occur in rare neurodegenerative diseases and difficulties in the correct diagnosis, there is a need to learn their characteristic imaging findings by using conventional MRI. That knowledge helps to determine the appropriate differential diagnosis and avoid misdiagnosis. The aim of this review is to present the typical neuroimaging signs of the selected neurodegenerative disorders and to create a practical approach to imaging findings useful in everyday clinical practice. Images: Images of progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), Creutzfeldt-Jakob disease (CJD), Wilson’s disease (WD), and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are provided to visualize and distinguish the typical features of those diseases and therefore to assist neurologists and neuroradiologists in decision-making process. Conclusions: It is important to know the characteristic MRI features of rare neurodegenerative diseases and to use them in everyday clinical practice. MRI is a valuable tool when considering the initial diagnosis because it is proven to be very useful in the differentiation of more advanced stages of the rare neurodegenerative diseases but also from other neurodegenerative disorders.
Dement Geriatr Cogn Disord

中文翻译：

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罕见神经退行性疾病的神经影像学综述

目的：由于罕见的神经退行性疾病临床症状多样，且难以正确诊断，需要通过常规MRI了解其特征性影像学表现。这些知识有助于确定适当的鉴别诊断并避免误诊。本综述的目的是展示所选神经退行性疾病的典型神经影像学征象，并为日常临床实践中有用的影像学发现创造一种实用的方法。图片：进行性核上性麻痹 (PSP)、多系统萎缩 (MSA)、皮质基底节变性 (CBD)、克雅氏病 (CJD)、威尔逊病 (WD) 和伴有皮层下梗塞和白质脑病的常染色体显性遗传性脑动脉病 (CADASIL) 的图像是提供可视化和区分这些疾病的典型特征，从而帮助神经科医生和神经放射科医生进行决策。结论：了解罕见神经退行性疾病的特征性 MRI 特征并将其用于日常临床实践非常重要。在考虑初始诊断时，MRI 是一种有价值的工具，因为它被证明在区分更晚期的罕见神经退行性疾病以及其他神经退行性疾病方面非常有用。
老年痴呆症认知障碍