Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers

Introduction 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. Areas covered Advances in HSP imaging are systematically reviewed with a focus on cohort sizes, imaging modalities, study design, clinical correlates, methodological approaches, and key findings. Expert opinion 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.

Automated summary

This article reviews the progress of imaging techniques in hereditary spastic paraplegias (HSP). The study highlights the use of various imaging modalities, study design, clinical correlations, and methodological approaches in HSP cohorts. Current limitations include genetically admixed cohorts, small sample sizes, lack of postmortem validation, and limited clinical battery. However, collaborative multicenter initiatives and comprehensive clinical profiling have the potential to overcome these limitations and develop viable clinical applications for HSP imaging.