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dc.contributor.authorSharma M
dc.contributor.authorIoannidis JP
dc.contributor.authorAasly JO
dc.contributor.authorAnnesi G
dc.contributor.authorBrice A
dc.contributor.authorBertram L
dc.contributor.authorBozi M
dc.contributor.authorBarcikowska M
dc.contributor.authorCrosiers D
dc.contributor.authorClarke CE
dc.contributor.authorFacheris MF
dc.contributor.authorFarrer M
dc.contributor.authorGarraux G
dc.contributor.authorGispert S
dc.contributor.authorAuburger G
dc.contributor.authorVilariño-Güell C
dc.contributor.authorHadjigeorgiou GM
dc.contributor.authorHicks AA
dc.contributor.authorHattori N
dc.contributor.authorJeon BS
dc.contributor.authorJamrozik Z
dc.contributor.authorKrygowska-Wajs A
dc.contributor.authorLesage S
dc.contributor.authorLill CM
dc.contributor.authorLin JJ
dc.contributor.authorLynch T
dc.contributor.authorLichtner P
dc.contributor.authorLang AE
dc.contributor.authorLibioulle C
dc.contributor.authorMurata M
dc.contributor.authorMok V
dc.contributor.authorJasinska-Myga B
dc.contributor.authorMellick GD
dc.contributor.authorMorrison KE
dc.contributor.authorMeitnger T
dc.contributor.authorZimprich A
dc.contributor.authorOpala G
dc.contributor.authorPramstaller PP
dc.contributor.authorPichler I
dc.contributor.authorPark SS
dc.contributor.authorQuattrone A
dc.contributor.authorRogaeva E
dc.contributor.authorRoss OA
dc.contributor.authorStefanis L
dc.contributor.authorStockton JD
dc.contributor.authorSatake W
dc.contributor.authorSilburn PA
dc.contributor.authorStrom TM
dc.contributor.authorTheuns J
dc.contributor.authorTan EK
dc.contributor.authorToda T
dc.contributor.authorTomiyama H
dc.contributor.authorUitti RJ
dc.contributor.authorVan Broeckhoven C
dc.contributor.authorWirdefeldt K
dc.contributor.authorWszolek Z
dc.contributor.authorXiromerisiou G
dc.contributor.authorYomono HS
dc.contributor.authorYueh KC
dc.contributor.authorZhao Y
dc.contributor.authorGasser T
dc.contributor.authorMaraganore D
dc.contributor.authorKrüger R
dc.contributor.authorGEO-PD Consortium
dc.date.accessioned2018-10-01T14:55:34Z
dc.date.available2018-10-01T14:55:34Z
dc.date.issued2012
dc.identifier.issn0002-9297
dc.identifier.urihttp://dx.doi.org/10.1136/jmedgenet-2012-101155
dc.identifier.urihttp://hdl.handle.net/10863/6287
dc.description.abstractBACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. METHODS AND RESULTS: We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. CONCLUSIONS: Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide.en_US
dc.language.isoenen_US
dc.rights
dc.titleA multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variantsen_US
dc.typeArticleen_US
dc.date.updated2018-10-01T14:45:46Z
dc.language.isiEN-GB
dc.journal.titleAmerican journal of human genetics
dc.description.fulltextnoneen_US


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