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

Grainne MulkerrinMarcondes C FrançaJasmin LopeEe Ling TanPeter Bede
Published in: Expert review of molecular diagnostics (2022)
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.
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