Department of Neurology, St James's Hospital, Dublin, Ireland.
Department of Neurology, the State University of Campinas, São Paulo, Brazil.
Expert Rev Mol Diagn. 2022 Jul;22(7):745-760. doi: 10.1080/14737159.2022.2118048. Epub 2022 Sep 5.
Hereditary spastic paraplegias (HSP) include a clinically and genetically heterogeneous group of conditions. Novel imaging modalities have been increasingly applied to HSP cohorts, which help to develop monitoring markers for both clinical care and future clinical trials.
Advances in HSP imaging are systematically reviewed with a focus on cohort sizes, imaging modalities, study design, clinical correlates, methodological approaches, and key findings.
A wide range of imaging techniques have been recently applied to HSP cohorts. Common shortcomings of existing studies include the evaluation of genetically admixed cohorts, limited sample sizes, lack of postmortem validation, and a limited clinical battery. A number of innovative methodological approaches have also been identified, such as robust longitudinal study designs, the implementation of multimodal imaging protocols, complementary cognitive assessments, and the comparison of HSP cohorts to MND cohorts. Collaborative multicenter initiatives may overcome sample limitations, and comprehensive clinical profiling with motor, extrapyramidal, cerebellar, and neuropsychological assessments would permit systematic clinico-radiological correlations. Academic achievements in HSP imaging have the potential to be developed into viable clinical applications to expedite the diagnosis and monitor disease progression.
遗传性痉挛性截瘫（HSP）包括一组临床表现和遗传异质性的疾病。新型成像方式已越来越多地应用于 HSP 队列，这有助于为临床护理和未来临床试验开发监测标志物。
本文系统综述了 HSP 成像方面的进展，重点介绍了队列规模、成像方式、研究设计、临床相关性、方法学方法和主要发现。
最近已经将多种成像技术应用于 HSP 队列。现有研究的常见缺点包括对遗传混合队列的评估、样本量有限、缺乏死后验证以及临床评估范围有限。还确定了一些创新的方法学方法，例如稳健的纵向研究设计、实施多模态成像方案、补充认知评估以及将 HSP 队列与 MND 队列进行比较。协作性多中心倡议可能克服样本限制，通过对运动、锥体外系、小脑和神经心理学评估进行全面的临床分析，可以实现系统的临床放射学相关性。HSP 成像方面的学术成果有可能发展成为可行的临床应用，以加速诊断和监测疾病进展。
