磁共振在诊断脊髓小脑性共济失调中最常见的形式

Olivera Tamaš, Vladimir S. Kostić
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引用次数: 0

摘要

脊髓小脑共济失调(SCAs)是一种常染色体显性共济失调的异质组,以小脑综合征和其他小脑外症状和体征的主要进行性演变为特征。今天,大约有40种遗传性SCA,本综述旨在描述欧洲和塞尔维亚最常见SCA亚型的临床图片和磁共振成像(MRI)结果。这是一组由CAG重复扩增引起的突变引起的多聚谷氨酰胺疾病,并伴有主要是小脑和脊髓的神经体积损失。磁共振在诊断中具有重要作用,因为它排除了结构损伤作为共济失调的潜在原因之一。除此之外,MRI显示的体积损失作为一种生物标志物,有助于监测不同亚型疾病的自然进展。这些MRI扫描的典型表现包括皮质-小脑萎缩、脊髓萎缩、橄榄桥-小脑萎缩以及上述萎缩的不同组合。不幸的是,没有明显的病理特征的MRI征象或征象的组合,以方便诊断。然而,某些SCA亚型的MRI表现有相似之处,尤其是在发病时。区分不同类型的萎缩和观察其他临床特征的能力在诊断过程中具有重要作用和显著的帮助。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Magnetic resonance in the diagnosis of the most common forms of spinocerebellar ataxia
Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant ataxias characterized by a dominantly progressive evolution of the cerebellar syndrome and other extra-cerebellar symptoms and signs. Today there are approximately 40 genetic SCAs and this review aims to describe the clinical picture and magnetic resonance imaging (MRI) findings of the most common SCA subtypes in Europe and Serbia. This is a group of polyglutamine diseases caused by mutations resulting from the expansion of the CAG repeats and accompanied by the loss of neural volume mainly of the cerebellum and the spinal cord. Magnetic resonance has a vital role in the diagnosis since it excludes structural damage as one of the potential causes of ataxia. In addition to this, the loss of volume, as demonstrated by MRI, serves as a biomarker that helps to monitor the natural progression of different subtypes of the disease. Typical findings in these MRI scans include cortico-cerebellar atrophy, spinal cord atrophy, olivopontocerebellar atrophy, and different combinations of the said atrophies. Unfortunately, there are no distinct pathognomonic MRI signs or combinations of signs to facilitate diagnosis. There are, however, similarities in the MRI findings of some of the SCA subtypes, especially at disease onset. The ability to differentiate one pattern of atrophy from another and observe other clinical characteristics can have an important role and can be of significant help in the diagnostic process.
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