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dc.contributor.authorPatel, H
dc.contributor.authorHart, PE
dc.contributor.authorWarner, TT
dc.contributor.authorHoulston, RS
dc.contributor.authorPatton, MA
dc.contributor.authorJeffery, S
dc.contributor.authorCrosby, AH
dc.date.accessioned2018-06-14T10:23:15Z
dc.date.issued2001-07
dc.identifier.citationAmerican journal of human genetics, 2001, 69 (1), pp. 209 - 215
dc.identifier.issn0002-9297
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1879
dc.identifier.eissn1537-6605
dc.identifier.doi10.1086/321267
dc.description.abstractThe hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.
dc.formatPrint-Electronic
dc.format.extent209 - 215
dc.languageeng
dc.language.isoeng
dc.subjectHand
dc.subjectChromosomes, Human, Pair 11
dc.subjectHumans
dc.subjectSpastic Paraplegia, Hereditary
dc.subjectSyndrome
dc.subjectGenetic Markers
dc.subjectChromosome Mapping
dc.subjectPedigree
dc.subjectAge of Onset
dc.subjectHaplotypes
dc.subjectGenes, Dominant
dc.subjectLod Score
dc.subjectGenetic Heterogeneity
dc.subjectAdolescent
dc.subjectAdult
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Variation
dc.titleThe Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
dc.typeJournal Article
dcterms.dateAccepted2001-04-25
rioxxterms.versionofrecord10.1086/321267
rioxxterms.licenseref.startdate2001-07
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAmerican journal of human genetics
pubs.issue1
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics
pubs.publication-statusPublished
pubs.volume69
pubs.embargo.termsNot known
icr.researchteamCancer Genomicsen_US
dc.contributor.icrauthorHoulston, Richarden


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