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Article: Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease

TitleNovel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease
Authors
Issue Date2000
PublisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com
Citation
Archives Of Neurology, 2000, v. 57 n. 10, p. 1454-1457 How to Cite?
Abstract
Two children of an adult with early-onset, autopsy-confirmed Alzheimer disease (AD) developed dementia in their late 20s and were subsequently found to have novel mutations in codon 434 of the presenilin 1 (PS1) gene on chromosome 14, a G-to-T substitution at nucleotide 1548 and a C-to-G substitution at nucleotide 1549. The younger of the 2 children had AD confirmed at postmortem examination. The disease course in these 3 individuals was characterized by cognitive and behavioral problems accompanied by myoclonus, seizures, and aphasia within 5 years after onset. Two grandparents had clinically diagnosed AD with stroke beginning at ages 78 and 66 years, but neither had a PS1 mutation. No other living family member was demented, nor did any other family member have the PS1 mutation. We conclude that the affected parent of the proband was a likely recent founder for these novel mutations in PS1. The family demonstrates the clinical and genetic heterogeneity of AD.
Persistent Identifierhttp://hdl.handle.net/10722/134765
ISSN
2013 Impact Factor: 7.008
ISI Accession Number ID
References

 

Author Affiliations
  1. University of California, San Francisco
  2. Lenox Hill Hospital
  3. Gertrude H. Sergievsky Center
  4. University of Rochester
  5. Long Isl. Alzheimer's Dis. Assit. C.
  6. University of Toronto
  7. Columbia University, College of Physicians and Surgeons
DC FieldValueLanguage
dc.contributor.authorDevi, Gen_HK
dc.contributor.authorFotiou, Aen_HK
dc.contributor.authorJyrinji, Den_HK
dc.contributor.authorTycko, Ben_HK
dc.contributor.authorDeArmand, Sen_HK
dc.contributor.authorRogaeva, Een_HK
dc.contributor.authorSong, YQen_HK
dc.contributor.authorMedieros, Hen_HK
dc.contributor.authorLiang, Yen_HK
dc.contributor.authorOrlacchio, Aen_HK
dc.contributor.authorWilliamson, Jen_HK
dc.contributor.authorSt GeorgeHyslop, Pen_HK
dc.contributor.authorMayeux, Ren_HK
dc.date.accessioned2011-07-14T07:03:04Z-
dc.date.available2011-07-14T07:03:04Z-
dc.date.issued2000en_HK
dc.identifier.citationArchives Of Neurology, 2000, v. 57 n. 10, p. 1454-1457en_HK
dc.identifier.issn0003-9942en_HK
dc.identifier.urihttp://hdl.handle.net/10722/134765-
dc.description.abstractTwo children of an adult with early-onset, autopsy-confirmed Alzheimer disease (AD) developed dementia in their late 20s and were subsequently found to have novel mutations in codon 434 of the presenilin 1 (PS1) gene on chromosome 14, a G-to-T substitution at nucleotide 1548 and a C-to-G substitution at nucleotide 1549. The younger of the 2 children had AD confirmed at postmortem examination. The disease course in these 3 individuals was characterized by cognitive and behavioral problems accompanied by myoclonus, seizures, and aphasia within 5 years after onset. Two grandparents had clinically diagnosed AD with stroke beginning at ages 78 and 66 years, but neither had a PS1 mutation. No other living family member was demented, nor did any other family member have the PS1 mutation. We conclude that the affected parent of the proband was a likely recent founder for these novel mutations in PS1. The family demonstrates the clinical and genetic heterogeneity of AD.en_HK
dc.publisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.comen_HK
dc.relation.ispartofArchives of Neurologyen_HK
dc.subject.meshAdulten_US
dc.subject.meshAge Distributionen_US
dc.subject.meshAge of Onseten_US
dc.subject.meshAgeden_US
dc.subject.meshAlzheimer Disease/epidemiology/*genetics/metabolismen_US
dc.subject.meshApolipoproteins E/metabolismen_US
dc.subject.meshChromosome Aberrations/geneticsen_US
dc.subject.meshChromosome Disordersen_US
dc.subject.meshChromosomes, Human, Pair 14/geneticsen_US
dc.subject.meshCodon/geneticsen_US
dc.subject.meshDNA Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMembrane Proteins/*geneticsen_US
dc.subject.meshNeurofibrillary Tangles/metabolismen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPoint Mutation/*geneticsen_US
dc.subject.meshPresenilin-1en_US
dc.titleNovel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer diseaseen_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.pmid11030797en_HK
dc.identifier.scopuseid_2-s2.0-0033776069en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033776069&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume57en_HK
dc.identifier.issue10en_HK
dc.identifier.spage1454en_HK
dc.identifier.epage1457en_HK
dc.identifier.isiWOS:000089821200007-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridDevi, G=7006048754en_HK
dc.identifier.scopusauthoridFotiou, A=18433921100en_HK
dc.identifier.scopusauthoridJyrinji, D=18433980800en_HK
dc.identifier.scopusauthoridTycko, B=7006946546en_HK
dc.identifier.scopusauthoridDeArmand, S=18433462500en_HK
dc.identifier.scopusauthoridRogaeva, E=35372614800en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK
dc.identifier.scopusauthoridMedieros, H=18434491300en_HK
dc.identifier.scopusauthoridLiang, Y=26642980800en_HK
dc.identifier.scopusauthoridOrlacchio, A=35074779600en_HK
dc.identifier.scopusauthoridWilliamson, J=7403200164en_HK
dc.identifier.scopusauthoridSt GeorgeHyslop, P=7005637468en_HK
dc.identifier.scopusauthoridMayeux, R=7101793222en_HK

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