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Article: Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations

TitleScreening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations
Authors
Issue Date2001
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2001, v. 57 n. 4, p. 621-625 How to Cite?
Abstract
Background: Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early onset familial AD. However, the clinical indications and algorithms for genetic testing in dementia are still evolving. Methods: The entire open reading frame of the PS1 gene was sequenced in a series of 414 consecutive patients referred for diagnostic testing, including 372 patients with AD and 42 asymptomatic persons with a strong family history of AD. Results: Forty-eight independent patients screened had a PS1 mutation including 21 novel mutations. In addition, 3% of subjects (11/413) had a known polymorphism, the Glu318Gly substitution. The majority of the mutations were missense substitutions but there were three insertions and Δexon 10 mutation. With six exceptions (codons 35, 178, 352, 354, 358, and 365) most of the mutations occurred at residues conserved in the homologous PS2 gene or in PS1 of other species. Conclusions: Eleven percent of a referral-based series of patients with AD can be explained by coding sequence mutations in the PS1 gene. The high frequency of PS1 mutations in this study indicates that screening for PS1 mutations in AD is likely to be successful, especially when directed at patients with a positive family history with onset before 60 years (90% of those with PS1 mutations were affected by age 60 years). This will also have significance for the secondary identification of at-risk relatives who might be candidates for future prophylactic therapies for AD.
Persistent Identifierhttp://hdl.handle.net/10722/134745
ISSN
2013 Impact Factor: 8.303
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRogaeva, EAen_HK
dc.contributor.authorFafel, KCen_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorMedeiros, Hen_HK
dc.contributor.authorSato, Cen_HK
dc.contributor.authorLiang, Yen_HK
dc.contributor.authorRichard, Een_HK
dc.contributor.authorRogaev, EIen_HK
dc.contributor.authorFrommelt, Pen_HK
dc.contributor.authorSadovnick, ADen_HK
dc.contributor.authorMeschino, Wen_HK
dc.contributor.authorRockwood, Ken_HK
dc.contributor.authorBoss, MAen_HK
dc.contributor.authorMayeux, Ren_HK
dc.contributor.authorSt GeorgeHyslop, Pen_HK
dc.date.accessioned2011-07-14T07:02:29Z-
dc.date.available2011-07-14T07:02:29Z-
dc.date.issued2001en_HK
dc.identifier.citationNeurology, 2001, v. 57 n. 4, p. 621-625en_HK
dc.identifier.issn0028-3878en_HK
dc.identifier.urihttp://hdl.handle.net/10722/134745-
dc.description.abstractBackground: Mutations in the presenilin-1 gene (PS1) account for a majority of patients with early onset familial AD. However, the clinical indications and algorithms for genetic testing in dementia are still evolving. Methods: The entire open reading frame of the PS1 gene was sequenced in a series of 414 consecutive patients referred for diagnostic testing, including 372 patients with AD and 42 asymptomatic persons with a strong family history of AD. Results: Forty-eight independent patients screened had a PS1 mutation including 21 novel mutations. In addition, 3% of subjects (11/413) had a known polymorphism, the Glu318Gly substitution. The majority of the mutations were missense substitutions but there were three insertions and Δexon 10 mutation. With six exceptions (codons 35, 178, 352, 354, 358, and 365) most of the mutations occurred at residues conserved in the homologous PS2 gene or in PS1 of other species. Conclusions: Eleven percent of a referral-based series of patients with AD can be explained by coding sequence mutations in the PS1 gene. The high frequency of PS1 mutations in this study indicates that screening for PS1 mutations in AD is likely to be successful, especially when directed at patients with a positive family history with onset before 60 years (90% of those with PS1 mutations were affected by age 60 years). This will also have significance for the secondary identification of at-risk relatives who might be candidates for future prophylactic therapies for AD.en_HK
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_HK
dc.relation.ispartofNeurologyen_HK
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 and overen_US
dc.subject.meshAlzheimer Disease/diagnosis/*geneticsen_US
dc.subject.meshGenetic Testing/*methodsen_US
dc.subject.meshHumansen_US
dc.subject.meshMembrane Proteins/*geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutation/*geneticsen_US
dc.subject.meshPresenilin-1en_US
dc.subject.meshReferral and Consultationen_US
dc.subject.meshSurvival Analysisen_US
dc.titleScreening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutationsen_HK
dc.typeArticleen_HK
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.pmid11524469en_HK
dc.identifier.scopuseid_2-s2.0-0035964209en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0035964209&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume57en_HK
dc.identifier.issue4en_HK
dc.identifier.spage621en_HK
dc.identifier.epage625en_HK
dc.identifier.isiWOS:000170623900009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridRogaeva, EA=35372614800en_HK
dc.identifier.scopusauthoridFafel, KC=6508131866en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridMedeiros, H=35418557900en_HK
dc.identifier.scopusauthoridSato, C=7201887342en_HK
dc.identifier.scopusauthoridLiang, Y=26642980800en_HK
dc.identifier.scopusauthoridRichard, E=7005030055en_HK
dc.identifier.scopusauthoridRogaev, EI=35391858800en_HK
dc.identifier.scopusauthoridFrommelt, P=55188269200en_HK
dc.identifier.scopusauthoridSadovnick, AD=7005523120en_HK
dc.identifier.scopusauthoridMeschino, W=6603914141en_HK
dc.identifier.scopusauthoridRockwood, K=7103175498en_HK
dc.identifier.scopusauthoridBoss, MA=7006259285en_HK
dc.identifier.scopusauthoridMayeux, R=7101793222en_HK
dc.identifier.scopusauthoridSt GeorgeHyslop, P=7005637468en_HK

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