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Lancet Neurol. 2019 Dec;18(12):1136-1146. doi: 10.1016/S1474-4422(19)30235-2. Epub 2019 Jul 31.

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Author information

1
Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK.
2
Cambridge Institute for Medical Research and Department of Medical Genetics, University of Cambridge, Cambridge, UK.
3
The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
4
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
5
Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK. Electronic address: t.warner@ucl.ac.uk.

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.

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