共 34 条
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease
被引:33
作者:

Devi, G
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Fotiou, A
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Jyrinji, D
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Tycko, B
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

DeArmand, S
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Rogaeva, E
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Song, YQ
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Medieros, H
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Liang, Y
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Orlacchio, A
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Williamson, J
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

St George-Hyslop, P
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA

Mayeux, R
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机构: Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA
机构:
[1] Columbia Univ, Gertrude H Sergievsky Ctr, Taub Inst Res Alzheimers Dis & Aging Brain, Dept Neurol, New York, NY 10032 USA
[2] Columbia Univ, Dept Pathol, New York, NY 10032 USA
[3] Columbia Univ, Coll Phys & Surg, New York, NY 10032 USA
[4] Columbia Univ, Dept Psychiat, New York, NY 10032 USA
[5] Long Isl Alzheimers Dis Assistence Ctr, Stony Brook, NY USA
[6] Univ Rochester, Dept Psychiat, Rochester, NY USA
[7] Univ Calif San Francisco, Dept Pathol, San Francisco, CA 94143 USA
[8] Toronto Western Hosp, Dept Med, Div Neurol, Toronto, ON M5T 2S8, Canada
[9] Univ Toronto, Ctr Res Neurodegenerat Dis, Toronto, ON, Canada
[10] Lenox Hill Hosp, New York Memory & Hlth Aging Serv, New York, NY 10021 USA
[11] Lenox Hill Hosp, Dept Med, Div Neurol, New York, NY 10021 USA
[12] Lenox Hill Hosp, Dept Psychiat, New York, NY 10021 USA
关键词:
D O I:
10.1001/archneur.57.10.1454
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
Two children of an adult with early-onset, autopsy-confirmed Alzheimer disease (AD) developed dementia in their late 20s and mere 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 tvas 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 never mutations in PS1. The family demonstrates the clinical and genetic heterogeneity of AD.
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页码:1454 / 1457
页数:4
相关论文
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机构: Hosp Clin, Inst Invest Biomed Agusti Pi I Sunyer, Genet Serv IDIBAPS, Barcelona, Spain

Blesa, R
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin, Inst Invest Biomed Agusti Pi I Sunyer, Genet Serv IDIBAPS, Barcelona, Spain

Gelpí, JL
论文数: 0 引用数: 0
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机构: Hosp Clin, Inst Invest Biomed Agusti Pi I Sunyer, Genet Serv IDIBAPS, Barcelona, Spain

Ballesta, F
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin, Inst Invest Biomed Agusti Pi I Sunyer, Genet Serv IDIBAPS, Barcelona, Spain

Oliva, R
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h-index: 0
机构: Hosp Clin, Inst Invest Biomed Agusti Pi I Sunyer, Genet Serv IDIBAPS, Barcelona, Spain
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

McNamara, MJ
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Nochlin, D
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Bird, TD
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Arango, JC
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Lopera, F
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Kosik, KS
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Lantos, PL
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机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

Cairns, NJ
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h-index: 0
机构: Massachusetts Gen Hosp, Neurol Serv, Boston, MA 02114 USA

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Brun, A
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机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

Englund, E
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机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

Hagnell, O
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机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

Nilsson, K
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h-index: 0
机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

Stensmyr, M
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h-index: 0
机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

Öhlin, AK
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h-index: 0
机构: Univ Lund Hosp, Dept Psychogeriatr, S-22185 Lund, Sweden

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机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Ellison, D
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机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Hardy, J
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h-index: 0
机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Hutton, M
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机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Rogues, PK
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h-index: 0
机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Collinge, J
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机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Fox, NC
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h-index: 0
机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England

Rossor, MN
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h-index: 0
机构: Natl Hosp Neurol & Neurosurg, Dementia Res Grp, London WC1N 3BG, England