Scaravilli Alessandra, Negroni Davide, Senatore Claudio, Santorelli Filippo Maria, Cocozza Sirio
Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini 5, Naples, 80131, Italy.
Department of Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
Cerebellum. 2025 Apr 30;24(4):91. doi: 10.1007/s12311-025-01842-x.
Magnetic Resonance Imaging (MRI) is a tool with an unquestionable role in the study of neurodegenerative disorders, both for diagnostic purposes and for its ability of providing imaging-derived biomarkers with a growing central role as reliable outcomes in clinical trials. This is even more relevant when dealing with rare disorders such as the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), in which the search of diagnostic and prognostic biomarker is crucial. Due to the rarity of this condition, a comprehensive knowledge of MRI signs observed in ARSACS is lacking. Furthermore, many domains remain still unexplored in ARSACS, especially with reference to the application of advanced imaging techniques that could shed light on the pathophysiological mechanisms of brain damage in this disorder. In this review, after a brief introduction on the major conventional and advanced MRI techniques that can used for diagnostic and research purposes, we present current neuroradiological knowledge in ARSACS. Having discussed strength and weak points of conventional and advanced imaging findings, we also suggest possible future research in this neurologically complex clinical condition.
磁共振成像（MRI）在神经退行性疾病研究中具有毋庸置疑的作用，既用于诊断目的，也因其能够提供源自成像的生物标志物，且在临床试验中作为可靠结果发挥着越来越核心的作用。在处理诸如夏尔沃 - 萨格奈常染色体隐性痉挛性共济失调（ARSACS）等罕见疾病时，这一点尤为重要，因为在这类疾病中寻找诊断和预后生物标志物至关重要。由于这种疾病的罕见性，目前缺乏对ARSACS中观察到的MRI征象的全面了解。此外，ARSACS的许多领域仍未得到探索，特别是在先进成像技术的应用方面，这些技术可能有助于揭示该疾病脑损伤的病理生理机制。在本综述中，在简要介绍可用于诊断和研究目的的主要传统及先进MRI技术后，我们展示了ARSACS当前的神经放射学知识。在讨论了传统和先进成像结果的优缺点后，我们还提出了针对这种神经学复杂临床病症未来可能的研究方向。
