File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

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?
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.
Persistent Identifierhttp://hdl.handle.net/10722/134765
ISSN
2014 Impact Factor: 7.419
ISI Accession Number ID
References

 

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.pmid11030797-
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

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats