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dc.contributor.authorHuang, Yue
dc.contributor.authorHalliday, Glenda M
dc.contributor.authorVandebona, Himesha
dc.contributor.authorMellick, George D
dc.contributor.authorMastaglia, Frank
dc.contributor.authorStevens, Julia
dc.contributor.authorKwok, John
dc.contributor.authorGarlepp, Michael
dc.contributor.authorSilburn, Peter A
dc.contributor.authorHorne, Malcolm K
dc.contributor.authorKotschet, Katya
dc.contributor.authorVenn, Alison
dc.contributor.authorRowe, Dominic B
dc.contributor.authorRubio, Justin P
dc.contributor.authorSue, Carolyn M
dc.date.accessioned2017-05-03T14:10:32Z
dc.date.available2017-05-03T14:10:32Z
dc.date.issued2007
dc.date.modified2008-12-04T01:36:18Z
dc.identifier.issn0885-3185
dc.identifier.doi10.1002/mds.21477
dc.identifier.urihttp://hdl.handle.net/10072/18505
dc.description.abstractAbstract: We determined the prevalence of two common leucine-rich repeat kinase 2 (LRRK2) gene mutations in Australian patients with Parkinson's disease (PD). Of 830 affected patients, eight were heterozygous for the G2019S mutation, and two were heterozygous for the R1441H (4,322 G A) mutation. In addition, one familial patient had a novel A1442P (4,324 G C) mutation. Haplotype analysis showed that all LRRK2 G2019S-positive individuals carried the common founder haplotype 1 and a putative founder haplotype for the R1441H mutation carriers. Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. Patients with the G2019S mutation in our series had a similar age of onset of symptoms when compared with patients with other LRRK2 mutations or sporadic PD, although they were more likely to have a family history of PD (2.4% of Australian patients with familial PD and 0.3% of Australian patients with sporadic PD). Our results demonstrate that the G2019S mutation carriers share the same ancestors who migrated to Australia originally from Europe and that other LRRK2 mutations (R1441H and A1442P) can be found in this population.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherWiley-Liss
dc.publisher.placeUnited States
dc.publisher.urihttp://www3.interscience.wiley.com/journal/76507419/home?CRETRY=1&SRETRY=0
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom982
dc.relation.ispartofpageto989
dc.relation.ispartofissue7
dc.relation.ispartofjournalMovement Disorders
dc.relation.ispartofvolume22
dc.rights.retentionY
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchHuman Movement and Sports Sciences
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchcode1103
dc.subject.fieldofresearchcode1106
dc.subject.fieldofresearchcode1109
dc.titleThe prevalence and clinical features of common LRRK2 mutations in Australians with Parkinson’s disease.
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.rights.copyright© 2007 John Wiley & Sons, Ltd. Self-archiving of the author-manuscript version is not yet supported by this publisher. Please refer to the journal link for access to the definitive, published version or contact the author for more information.
gro.date.issued2007
gro.hasfulltextNo Full Text
gro.griffith.authorSilburn, Peter A.
gro.griffith.authorMellick, George


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