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Article: Familial Parkinsonism with digenic Parkin and PINK1 mutations

TitleFamilial Parkinsonism with digenic Parkin and PINK1 mutations
Authors
Issue Date2008
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/76507419
Citation
Movement Disorders, 2008, v. 23 n. 10, p. 1461-1463 How to Cite?
AbstractTo clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders. © 2008 Movement Disorder Society.
Persistent Identifierhttp://hdl.handle.net/10722/148582
ISSN
2015 Impact Factor: 6.01
2015 SCImago Journal Rankings: 2.733
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorFunayama, Men_US
dc.contributor.authorLi, Yen_US
dc.contributor.authorTsoi, THen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorOhi, Ten_US
dc.contributor.authorYazawa, Sen_US
dc.contributor.authorUyama, Een_US
dc.contributor.authorDjaldetti, Ren_US
dc.contributor.authorMelamed, Een_US
dc.contributor.authorYoshino, Hen_US
dc.contributor.authorImamichi, Yen_US
dc.contributor.authorTakashima, Hen_US
dc.contributor.authorNishioka, Ken_US
dc.contributor.authorSato, Ken_US
dc.contributor.authorTomiyama, Hen_US
dc.contributor.authorKubo, SIen_US
dc.contributor.authorMizuno, Yen_US
dc.contributor.authorHattori, Nen_US
dc.date.accessioned2012-05-29T06:13:53Z-
dc.date.available2012-05-29T06:13:53Z-
dc.date.issued2008en_US
dc.identifier.citationMovement Disorders, 2008, v. 23 n. 10, p. 1461-1463en_US
dc.identifier.issn0885-3185en_US
dc.identifier.urihttp://hdl.handle.net/10722/148582-
dc.description.abstractTo clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders. © 2008 Movement Disorder Society.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/76507419en_US
dc.relation.ispartofMovement Disordersen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAge Of Onseten_US
dc.subject.meshAgeden_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshEthnic Groups - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshJapan - Epidemiologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutagenesis, Insertionalen_US
dc.subject.meshMutationen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshParkinson Disease - Complications - Ethnology - Geneticsen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshProtein Kinases - Geneticsen_US
dc.subject.meshSchizophrenia - Complications - Ethnology - Geneticsen_US
dc.subject.meshUbiquitin-Protein Ligases - Geneticsen_US
dc.titleFamilial Parkinsonism with digenic Parkin and PINK1 mutationsen_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.doi10.1002/mds.22143en_US
dc.identifier.pmid18546294en_US
dc.identifier.scopuseid_2-s2.0-52649172321en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-52649172321&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume23en_US
dc.identifier.issue10en_US
dc.identifier.spage1461en_US
dc.identifier.epage1463en_US
dc.identifier.isiWOS:000258422300017-
dc.publisher.placeUnited Statesen_US

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