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Article: PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier

TitlePS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier
Authors
Rogaeva, EBergeron, CSato, CMoliaka, IKawarai, TToulina, ASong, YQKolesnikova, TOrlacchio, ABernardi, GSt GeorgeHyslop, PH
Issue Date2003
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2003, v. 61 n. 7, p. 1005-1007 How to Cite?
DOI: http://dx.doi.org/10.1212/WNL.61.7.1005
AbstractPS1 mutations are associated with classic Alzheimer's disease (AD); however, some families develop AD and spastic paraplegia (SP) with brain pathology characterized by Aβ cotton wool plaques. The authors report a variant AD family with the E280Q PS1 mutation. The fact that the same PS1 mutation can be found in patients with either variant or classic AD argues in favor of the presence of a genetic modifier. The authors have excluded that this modifier effect originates from coding sequence variations in three SP genes or from a second mutation in the other AD genes.
Persistent Identifierhttp://hdl.handle.net/10722/147497
ISSN
0028-3878
2021 Impact Factor: 11.800
2020 SCImago Journal Rankings: 2.910
ISI Accession Number ID
WOS:000185911400032
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorRogaeva, Een_US
dc.contributor.authorBergeron, Cen_US
dc.contributor.authorSato, Cen_US
dc.contributor.authorMoliaka, Ien_US
dc.contributor.authorKawarai, Ten_US
dc.contributor.authorToulina, Aen_US
dc.contributor.authorSong, YQen_US
dc.contributor.authorKolesnikova, Ten_US
dc.contributor.authorOrlacchio, Aen_US
dc.contributor.authorBernardi, Gen_US
dc.contributor.authorSt GeorgeHyslop, PHen_US
dc.date.accessioned2012-05-29T06:04:08Z-
dc.date.available2012-05-29T06:04:08Z-
dc.date.issued2003en_US
dc.identifier.citationNeurology, 2003, v. 61 n. 7, p. 1005-1007en_US
dc.identifier.issn0028-3878en_US
dc.identifier.urihttp://hdl.handle.net/10722/147497-
dc.description.abstractPS1 mutations are associated with classic Alzheimer's disease (AD); however, some families develop AD and spastic paraplegia (SP) with brain pathology characterized by Aβ cotton wool plaques. The authors report a variant AD family with the E280Q PS1 mutation. The fact that the same PS1 mutation can be found in patients with either variant or classic AD argues in favor of the presence of a genetic modifier. The authors have excluded that this modifier effect originates from coding sequence variations in three SP genes or from a second mutation in the other AD genes.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_US
dc.relation.ispartofNeurologyen_US
dc.subject.meshAlternative Splicingen_US
dc.subject.meshAlzheimer Disease - Complications - Genetics - Pathologyen_US
dc.subject.meshBrain - Pathologyen_US
dc.subject.meshChromosome Disordersen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFamilyen_US
dc.subject.meshFemaleen_US
dc.subject.meshGtp Phosphohydrolases - Geneticsen_US
dc.subject.meshGtp-Binding Proteinsen_US
dc.subject.meshGenes, Dominanten_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins - Geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshParaplegia - Complications - Genetics - Pathologyen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPlaque, Amyloid - Pathologyen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPresenilin-1en_US
dc.subject.meshSpinal Cord - Pathologyen_US
dc.titlePS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifieren_US
dc.typeArticleen_US
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_US
dc.identifier.authoritySong, YQ=rp00488en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1212/WNL.61.7.1005-
dc.identifier.pmid14557582-
dc.identifier.scopuseid_2-s2.0-10744224527en_US
dc.identifier.hkuros88167-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-10744224527&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume61en_US
dc.identifier.issue7en_US
dc.identifier.spage1005en_US
dc.identifier.epage1007en_US
dc.identifier.isiWOS:000185911400032-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridRogaeva, E=35372614800en_US
dc.identifier.scopusauthoridBergeron, C=8134058100en_US
dc.identifier.scopusauthoridSato, C=7201887342en_US
dc.identifier.scopusauthoridMoliaka, I=6603457066en_US
dc.identifier.scopusauthoridKawarai, T=34570127300en_US
dc.identifier.scopusauthoridToulina, A=6506256376en_US
dc.identifier.scopusauthoridSong, YQ=7404921212en_US
dc.identifier.scopusauthoridKolesnikova, T=7006037663en_US
dc.identifier.scopusauthoridOrlacchio, A=35074779600en_US
dc.identifier.scopusauthoridBernardi, G=7201640028en_US
dc.identifier.scopusauthoridSt GeorgeHyslop, PH=7005637468en_US
dc.identifier.issnl0028-3878-

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