Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

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Authors
Crosby, Andrew H.
Journal
The Lancet. Neurology
Type
Journal Article
Publisher
Elsevier Science
Rights
Copyright © 2019 Elsevier Ltd. All rights reserved.
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 substantially according to the affected gene and differentiating HSP from other genetic diseases associated with spasticity can be challenging. Next generation sequencing-based gene panels are now widely available but have limitations and a molecular diagnosis is not made in most suspected cases. Symptomatic management continues to evolve but with a greater understanding of the pathophysiological basis of individual HSP subtypes there are emerging opportunities to provide targeted molecular therapies and personalised medicine.
Citation
Shribman S et al. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol. 2019 Dec;18(12):1136-1146. doi: 10.1016/S1474-4422(19)30235-2. Epub 2019 Jul 31.
Note
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