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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
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TitleNovel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease
 
AuthorsDevi, G2 7
Fotiou, A5
Jyrinji, D4
Tycko, B7 3
DeArmand, S1
Rogaeva, E6
Song, YQ6
Medieros, H6
Liang, Y6
Orlacchio, A6
Williamson, J7
St GeorgeHyslop, P6
Mayeux, R7
 
Issue Date2000
 
PublisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com
 
CitationArchives 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.
 
ISSN0003-9942
2013 Impact Factor: 7.008
 
ISI Accession Number IDWOS:000089821200007
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorDevi, G
 
dc.contributor.authorFotiou, A
 
dc.contributor.authorJyrinji, D
 
dc.contributor.authorTycko, B
 
dc.contributor.authorDeArmand, S
 
dc.contributor.authorRogaeva, E
 
dc.contributor.authorSong, YQ
 
dc.contributor.authorMedieros, H
 
dc.contributor.authorLiang, Y
 
dc.contributor.authorOrlacchio, A
 
dc.contributor.authorWilliamson, J
 
dc.contributor.authorSt GeorgeHyslop, P
 
dc.contributor.authorMayeux, R
 
dc.date.accessioned2011-07-14T07:03:04Z
 
dc.date.available2011-07-14T07:03:04Z
 
dc.date.issued2000
 
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.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationArchives Of Neurology, 2000, v. 57 n. 10, p. 1454-1457 [How to Cite?]
 
dc.identifier.epage1457
 
dc.identifier.isiWOS:000089821200007
 
dc.identifier.issn0003-9942
2013 Impact Factor: 7.008
 
dc.identifier.issue10
 
dc.identifier.pmid11030797
 
dc.identifier.scopuseid_2-s2.0-0033776069
 
dc.identifier.spage1454
 
dc.identifier.urihttp://hdl.handle.net/10722/134765
 
dc.identifier.volume57
 
dc.publisherAmerican Medical Association. The Journal's web site is located at http://www.archneurol.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofArchives of Neurology
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAdult
 
dc.subject.meshAge Distribution
 
dc.subject.meshAge of Onset
 
dc.subject.meshAged
 
dc.subject.meshAlzheimer Disease/epidemiology/*genetics/metabolism
 
dc.subject.meshApolipoproteins E/metabolism
 
dc.subject.meshChromosome Aberrations/genetics
 
dc.subject.meshChromosome Disorders
 
dc.subject.meshChromosomes, Human, Pair 14/genetics
 
dc.subject.meshCodon/genetics
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshFemale
 
dc.subject.meshHumans
 
dc.subject.meshMale
 
dc.subject.meshMembrane Proteins/*genetics
 
dc.subject.meshNeurofibrillary Tangles/metabolism
 
dc.subject.meshPedigree
 
dc.subject.meshPoint Mutation/*genetics
 
dc.subject.meshPresenilin-1
 
dc.titleNovel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease
 
dc.typeArticle
 
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<contributor.author>DeArmand, S</contributor.author>
<contributor.author>Rogaeva, E</contributor.author>
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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