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dc.contributor.authorHensiek, Ankeen
dc.contributor.authorKirker, Stephenen
dc.contributor.authorReid, Evanen
dc.date.accessioned2015-02-11T14:48:50Z
dc.date.available2015-02-11T14:48:50Z
dc.date.issued2014-12-06en
dc.identifier.citationJournal of Neurology July 2015, Volume 262, Issue 7, pp 1601-1612. DOI: 10.1007/s00415-014-7598-yen
dc.identifier.issn0340-5354
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/246732
dc.description.abstractThe 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.
dc.description.sponsorshipWe 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 [082381]; the Tom Wahlig Stiftung; and the UK HSP Support Group. The Cambridge Institute for Medical Research is supported by a Wellcome Trust Strategic Award [100140].
dc.languageEnglishen
dc.language.isoenen
dc.publisherSpringer
dc.rightsAttribution 2.0 UK: England & Wales*
dc.rights.urihttp://creativecommons.org/licenses/by/2.0/uk/*
dc.subjectHereditary spastic paraplegiaen
dc.subjectAxonal degenerationen
dc.subjectPure HSPen
dc.subjectComplex HSP with cerebellar ataxiaen
dc.subjectThin corpus callosumen
dc.titleDiagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencingen
dc.typeArticle
dc.description.versionThis is the final published version. It first appeared at http://link.springer.com/article/10.1007%2Fs00415-014-7598-y.en
prism.endingPage1612
prism.publicationDate2014en
prism.publicationNameJournal of Neurologyen
prism.startingPage1601
prism.volume262en
dc.rioxxterms.funderMRC
dc.rioxxterms.funderWellcome Trust
dc.rioxxterms.projectidMR/M00046X/1
dc.rioxxterms.projectid082381
dc.rioxxterms.projectid100140
dcterms.dateAccepted2014-11-25en
rioxxterms.versionofrecord10.1007/s00415-014-7598-yen
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2014-12-06en
dc.identifier.eissn1432-1459
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idMRC (MR/M00046X/1)
pubs.funder-project-idWellcome Trust (100140/Z/12/Z)
pubs.funder-project-idWellcome Trust (082381/Z/07/Z)


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Attribution 2.0 UK: England & Wales
Except where otherwise noted, this item's licence is described as Attribution 2.0 UK: England & Wales