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, B3 7
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
2011 Impact Factor: 7.584
2011 SCImago Journal Rankings: 0.613
ISI Accession Number IDWOS:000089821200007
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 7.584
2011 SCImago Journal Rankings: 0.613
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
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