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Article: Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation

TitlePantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation
Authors
Issue Date2008
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2008, v. 14 n. 1, p. 70-73 How to Cite?
AbstractPantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration. DNAbased diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase-associated neurodegeneration-like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase-associated neurodegeneration inheritance.
Persistent Identifierhttp://hdl.handle.net/10722/148551
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorChan, KYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorLee, LPen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorYuen, YPen_US
dc.date.accessioned2012-05-29T06:13:40Z-
dc.date.available2012-05-29T06:13:40Z-
dc.date.issued2008en_US
dc.identifier.citationHong Kong Medical Journal, 2008, v. 14 n. 1, p. 70-73en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148551-
dc.description.abstractPantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome), the most prevalent form of neurodegeneration with brain iron accumulation, is a rare degenerative brain disease characterised by predominantly extrapyramidal dysfunction resulting from mutations in the PANK2 (pantothenate kinase 2) gene. Using DNA mutation analysis, the authors identified a novel missense mutation (P354L) in exon 4 of the PANK2 gene in an adolescent with classic pantothenate kinase-associated neurodegeneration. DNAbased diagnosis of pantothenate kinase-associated neurodegeneration plays a key role in determination, and can make the diagnosis more simply, directly, and economically because it obviates the need for unnecessary biochemical tests. Once pantothenate kinase-associated neurodegeneration-like symptoms are identified, mutation analysis and target screening for the family of the proband can provide efficient and accurate evidence of pantothenate kinase-associated neurodegeneration inheritance.en_US
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_US
dc.relation.ispartofHong Kong Medical Journalen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.subject.meshPantothenate Kinase-Associated Neurodegeneration - Geneticsen_US
dc.subject.meshPhosphotransferases (Alcohol Group Acceptor) - Geneticsen_US
dc.subject.meshPolymorphism, Single Nucleotide - Geneticsen_US
dc.subject.meshSequence Analysis, Dnaen_US
dc.titlePantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutationen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid18239249-
dc.identifier.scopuseid_2-s2.0-41649086780en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-41649086780&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume14en_US
dc.identifier.issue1en_US
dc.identifier.spage70en_US
dc.identifier.epage73en_US
dc.publisher.placeHong Kongen_US

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