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- W2910002642 abstract "Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP." @default.
- W2910002642 created "2019-01-25" @default.
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- W2910002642 date "2019-01-16" @default.
- W2910002642 modified "2023-10-01" @default.
- W2910002642 title "Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives" @default.
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- W2910002642 doi "https://doi.org/10.3389/fneur.2018.01117" @default.
- W2910002642 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6346681" @default.
- W2910002642 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30713518" @default.
- W2910002642 hasPublicationYear "2019" @default.
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