Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.
The Lancet. Neurology
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Shribman, S., Reid, E., Crosby, A. H., Houlden, H., & Warner, T. T. (2019). Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.. The Lancet. Neurology, 18 (12), 1136-1146. https://doi.org/10.1016/s1474-4422(19)30235-2
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The pathogenic mechanism, associated clinical features and imaging abnormalities vary significantly according to the affected gene. Here, we describe the clinical and imaging characteristics of the more common forms of HSP. We discuss how to approach the diagnosis and management of a suspected case of HSP in the era of next generation sequencing, before discussing treatment and the potential of emerging therapeutic options for specific causes of HSP based on their underlying molecular mechanism.
Humans, Spastic Paraplegia, Hereditary, Genetic Predisposition to Disease, Mutation, High-Throughput Nucleotide Sequencing, Genetic Therapy, Precision Medicine
External DOI: https://doi.org/10.1016/s1474-4422(19)30235-2
This record's URL: https://www.repository.cam.ac.uk/handle/1810/296064
Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/