Cocozza Sirio, Pontillo Giuseppe, De Michele Giovanna, Di Stasi Martina, Guerriero Elvira, Perillo Teresa, Pane Chiara, De Rosa Anna, Ugga Lorenzo, Brunetti Arturo
Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.
Department of Electrical Engineering and Information Technology, University of Naples "Federico II", Naples, Italy.
Neuroradiology. 2021 Jul;63(7):983-999. doi: 10.1007/s00234-021-02682-2. Epub 2021 Mar 17.
Cerebellar ataxias are a large and heterogeneous group of disorders. The evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of these conditions, being mandatory to exclude the presence of other underlying causes in determining the clinical phenotype. Once these possible causes are ruled out, the diagnosis is usually researched in the wide range of hereditary or sporadic ataxias.
We here propose a review of the main clinical and conventional imaging findings of the most common hereditary degenerative ataxias, to help neuroradiologists in the evaluation of these patients.
Hereditary degenerative ataxias are all usually characterized from a neuroimaging standpoint by the presence, in almost all cases, of cerebellar atrophy. Nevertheless, a proper assessment of imaging data, extending beyond the mere evaluation of cerebellar atrophy, evaluating also the pattern of volume loss as well as concomitant MRI signs, is crucial to achieve a proper diagnosis.
The integration of typical neuroradiological characteristics, along with patient's clinical history and laboratory data, could allow the neuroradiologist to identify some conditions and exclude others, addressing the neurologist to the more appropriate genetic testing.
小脑性共济失调是一大类异质性疾病。通过磁共振成像（MRI）对脑实质进行评估在这些疾病的诊断评估中起着核心作用，在确定临床表型时必须排除其他潜在病因。一旦排除这些可能的病因，通常会在广泛的遗传性或散发性共济失调中进行诊断研究。
我们在此对最常见的遗传性退行性共济失调的主要临床和传统影像学表现进行综述，以帮助神经放射科医生评估这些患者。
从神经影像学角度来看，遗传性退行性共济失调通常在几乎所有病例中都表现为小脑萎缩。然而，对影像学数据进行恰当评估，不仅要评估小脑萎缩，还要评估体积丢失模式以及伴随的MRI征象，对于做出正确诊断至关重要。
将典型的神经放射学特征与患者的临床病史和实验室数据相结合，可使神经放射科医生识别某些疾病并排除其他疾病，为神经科医生指明更合适的基因检测方向。
