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Article: Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

TitleHereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family
Authors
KeywordsDNA mutational analysis
Genes, dominant
Mutation, missense
Neurodegenerative diseases
Spastic paraplegia, hereditary
Issue Date2009
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2009, v. 15 n. 4, p. 304-307 How to Cite?
AbstractHereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the pure-form autosomal dominant type is the one most commonly reported. Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias. Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. To our knowledge, this is the first report of a gene mutation in hereditary spastic paraplegias in our locality. DNA-based diagnosis plays a key role in the early diagnosis of familial hereditary spastic paraplegias.
Persistent Identifierhttp://hdl.handle.net/10722/129534
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorChan, KYen_HK
dc.contributor.authorChing, CKen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorChan, AYWen_HK
dc.date.accessioned2010-12-23T08:38:31Z-
dc.date.available2010-12-23T08:38:31Z-
dc.date.issued2009en_HK
dc.identifier.citationHong Kong Medical Journal, 2009, v. 15 n. 4, p. 304-307en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129534-
dc.description.abstractHereditary spastic paraplegias are a heterogeneous group of chronic central motor system disorders, characterised by progressive lower limb spasticity. Hereditary spastic paraplegia is clinically classified into pure and complicated forms, by the absence or presence of additional neurological or extra-neurological features. Hereditary spastic paraplegias follow all modes of inheritance and the pure-form autosomal dominant type is the one most commonly reported. Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant hereditary spastic paraplegias. Using DNA mutation analysis, the authors identified an SPG3A missense mutation (p.R239C) in a Chinese family where three members have early-onset pure spastic paraplegia. To our knowledge, this is the first report of a gene mutation in hereditary spastic paraplegias in our locality. DNA-based diagnosis plays a key role in the early diagnosis of familial hereditary spastic paraplegias.en_HK
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.-
dc.subjectDNA mutational analysisen_HK
dc.subjectGenes, dominanten_HK
dc.subjectMutation, missenseen_HK
dc.subjectNeurodegenerative diseasesen_HK
dc.subjectSpastic paraplegia, hereditaryen_HK
dc.titleHereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese familyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=15&issue=4&spage=304&epage=307&date=2009&atitle=Hereditary+spastic+paraplegia:+identification+of+an+SPG3A+gene+mutation+in+a+Chinese+family-
dc.identifier.emailChan, KY:kelvinc@pathology.hku.hken_HK
dc.identifier.authorityChan, KY=rp00453en_HK
dc.description.naturepublished_or_final_versionen_US
dc.identifier.pmid19652243-
dc.identifier.scopuseid_2-s2.0-70349432296en_HK
dc.identifier.hkuros176801en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-70349432296&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume15en_HK
dc.identifier.issue4en_HK
dc.identifier.spage304en_HK
dc.identifier.epage307en_HK
dc.publisher.placeHong Kongen_HK

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