Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
Journal of Neurology
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Hensiek, A., Kirker, S., & Reid, E. A. (2014). Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. Journal of Neurology, 262 1601-1612. https://doi.org/10.1007/s00415-014-7598-y
The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an opportunity to identify genes, proteins and cellular pathways that are critical for axonal health. In this review, we will provide a brief overview of the classification, clinical features and genetics of HSP, highlighting selected HSP subtypes (i.e. those associated with thin corpus callosum or cerebellar ataxia) that are of particular clinical interest. We will then discuss appropriate investigation strategies for HSPs, suggesting how these might evolve with the introduction of next-generation sequencing technology. Finally, we will discuss the management of HSP, an area somewhat neglected by HSP research.
Hereditary spastic paraplegia, Axonal degeneration, Pure HSP, Complex HSP with cerebellar ataxia, Thin corpus callosum
We thank Rhys Roberts for reviewing the manuscript. This work was supported by grants from the UK Medical Research Council [MR/M00046X/1]; the Wellcome Trust ; the Tom Wahlig Stiftung; and the UK HSP Support Group. The Cambridge Institute for Medical Research is supported by a Wellcome Trust Strategic Award .
External DOI: https://doi.org/10.1007/s00415-014-7598-y
This record's URL: https://www.repository.cam.ac.uk/handle/1810/246732
Attribution 2.0 UK: England & Wales
Licence URL: http://creativecommons.org/licenses/by/2.0/uk/
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