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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Shribman, S; Reid, E; Crosby, AH; Houlden, H; Warner, TT; (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. The Lancet Neurology , 18 (12) pp. 1136-1146. 10.1016/S1474-4422(19)30235-2. Green open access

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Abstract

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.

Type: Article
Title: Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/S1474-4422(19)30235-2
Publisher version: https://doi.org/10.1016/S1474-4422(19)30235-2
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10080575
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