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Article: Two large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study

TitleTwo large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic study
Authors
Nicholl, DJVaughan, JRKhan, NLHo, SLAldous, DEWLincoln, SFarrer, MGayton, JDDavis, MBPiccini, PDaniel, SELennox, GGBrooks, DJWilliams, ACWood, NW
KeywordsFamilial
Lewy body
Parkin
Parkinson's disease
α-synuclein
Issue Date2002
PublisherOxford University Press. The Journal's web site is located at http://brain.oxfordjournals.org/
Citation
Brain, 2002, v. 125 n. 1, p. 44-57 How to Cite?
DOI: http://dx.doi.org/10.1093/brain/awf013
AbstractWe present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [18F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.
Persistent Identifierhttp://hdl.handle.net/10722/162583
ISSN
0006-8950
2023 Impact Factor: 10.6
2023 SCImago Journal Rankings: 4.689
ISI Accession Number ID
WOS:000173651900007
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorNicholl, DJen_US
dc.contributor.authorVaughan, JRen_US
dc.contributor.authorKhan, NLen_US
dc.contributor.authorHo, SLen_US
dc.contributor.authorAldous, DEWen_US
dc.contributor.authorLincoln, Sen_US
dc.contributor.authorFarrer, Men_US
dc.contributor.authorGayton, JDen_US
dc.contributor.authorDavis, MBen_US
dc.contributor.authorPiccini, Pen_US
dc.contributor.authorDaniel, SEen_US
dc.contributor.authorLennox, GGen_US
dc.contributor.authorBrooks, DJen_US
dc.contributor.authorWilliams, ACen_US
dc.contributor.authorWood, NWen_US
dc.date.accessioned2012-09-05T05:21:24Z-
dc.date.available2012-09-05T05:21:24Z-
dc.date.issued2002en_US
dc.identifier.citationBrain, 2002, v. 125 n. 1, p. 44-57en_US
dc.identifier.issn0006-8950en_US
dc.identifier.urihttp://hdl.handle.net/10722/162583-
dc.description.abstractWe present the findings of a study of two large unrelated kindreds with autosomal dominant Parkinson's disease. The affected members were assessed clinically and with [18F]6-fluorodopa-PET and were indistinguishable from patients with the sporadic form of Parkinson's disease. In one kindred, an affected member was examined subsequently at autopsy and Lewy bodies were present in a distribution typical of sporadic Parkinson's disease. These kindreds are distinct from other Parkinsonian kindreds with identified genetic loci (PARK1-4) and provide further evidence for genetic heterogeneity in familial Parkinson's disease.en_US
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://brain.oxfordjournals.org/en_US
dc.relation.ispartofBrainen_US
dc.subjectFamilial-
dc.subjectLewy body-
dc.subjectParkin-
dc.subjectParkinson's disease-
dc.subjectα-synuclein-
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshBrain - Metabolism - Pathologyen_US
dc.subject.meshData Interpretation, Statisticalen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshGreat Britainen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshLewy Bodies - Pathologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshNeurons - Metabolism - Pathologyen_US
dc.subject.meshParkinson Disease - Genetics - Pathology - Physiopathologyen_US
dc.subject.meshPedigreeen_US
dc.subject.meshTomography, Emission-Computeden_US
dc.titleTwo large British kindreds with familial Parkinson's disease: A clinico-pathological and genetic studyen_US
dc.typeArticleen_US
dc.identifier.emailHo, SL:slho@hku.hken_US
dc.identifier.authorityHo, SL=rp00240en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1093/brain/awf013-
dc.identifier.pmid11834592-
dc.identifier.scopuseid_2-s2.0-0036153930en_US
dc.identifier.hkuros80629-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036153930&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume125en_US
dc.identifier.issue1en_US
dc.identifier.spage44en_US
dc.identifier.epage57en_US
dc.identifier.isiWOS:000173651900007-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridNicholl, DJ=7003436119en_US
dc.identifier.scopusauthoridVaughan, JR=7202772270en_US
dc.identifier.scopusauthoridKhan, NL=7401797416en_US
dc.identifier.scopusauthoridHo, SL=25959633500en_US
dc.identifier.scopusauthoridAldous, DEW=7005991102en_US
dc.identifier.scopusauthoridLincoln, S=9243581100en_US
dc.identifier.scopusauthoridFarrer, M=35380197600en_US
dc.identifier.scopusauthoridGayton, JD=6603839020en_US
dc.identifier.scopusauthoridDavis, MB=35393566400en_US
dc.identifier.scopusauthoridPiccini, P=7006264864en_US
dc.identifier.scopusauthoridDaniel, SE=7201730866en_US
dc.identifier.scopusauthoridLennox, GG=7003824275en_US
dc.identifier.scopusauthoridBrooks, DJ=35373001000en_US
dc.identifier.scopusauthoridWilliams, AC=7405838652en_US
dc.identifier.scopusauthoridWood, NW=7202960784en_US
dc.identifier.issnl0006-8950-

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