Abstract：
:Genetic linkage studies have provided evidence for a late-onset Alzheimer's disease (AD) susceptibility locus on chromosome 21q. We have tested, in a two-stage association study, whether allelic or haplotype variation of the beta-amyloid cleaving enzyme-2 (BACE2) locus on chromosome 21q affects the risk of late-onset AD. In stage-1, an unselected population-based sample of Finns aged 85 years or over (n=515) was analysed. Neuropathologic examination including beta-amyloid load quantification was possible in over 50% (n=264) of these subjects. AD patients (n=100) and controls (n=48) were defined by modified neuropathological NIA-RI criteria. Positive associations were taken as a hypothesis, and tested in stage-2 using 483 AD families from the USA. Four single nucleotide polymorphisms (SNPs) of BACE2 gene were tested in stage-1. A SNP close to exon-6 was associated with neuropathologically verified AD (p=0.02) and also with beta-amyloid load in non-selected autopsied subjects after conditioning with APOE genotype (p=0.001). In haplotype analysis a specific, relatively common haplotype (H5) was found to associate with AD (p=0.004) and a second haplotype (H7) showed a weaker association with protection against AD (p=0.04). In stage-2, the SNP association was not replicated, whereas the haplotype H5 association was replicated (p=0.004) and a trend to association was found with the putative protective haplotype H7 (two-sided p=0.08). BACE2 haplotype association with AD in two independent datasets provides further evidence for an AD susceptibility locus on chromosome 21q within or close to BACE2.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Myllykangas L,Wavrant-De Vrièze F,Polvikoski T,Notkola IL,Sulkava R,Niinistö L,Edland SD,Arepalli S,Adighibe O,Compton D,Hardy J,Haltia M,Tienari PJdoi
10.1016/j.jns.2005.04.008subject
Has Abstractpub_date
2005-09-15 00:00:00pages
17-24issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(05)00158-9journal_volume
236pub_type
杂志文章,多中心研究abstract：:Brain imaging studies as well as neuropsychological case studies suggest an important role for basal ganglia in arithmetic processing. Aim of this study was to assess possible numerical deficits in PD and functional relations between numerical and other cognitive deficits. Fifteen non-demented patients with early PD (...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2006.05.037
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abstract：:Vitamin B1- and B-deficient encephalopathy was produced in adult Wistar rats and the effect of methylcobalamin was studied. These experiments were performed in vitamin B1- or B-deficient rats with or without the administration of guanidine, a magnesium antagonist. These encephalopathic rats showed symmetrical lesions ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90210-3
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abstract：BACKGROUND:The differentiation of intracranial atherosclerosis (ICAS) and embolism is important. OBJECTIVE:In cases of ICAS, we observe a phenomenon that we call the "post-stent-deployment effect"; that is, all major branches are clearly visible beyond the occlusion segment when the stent is deployed at the site of oc...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116957
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
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abstract：OBJECTIVE:Neurodegenerative diseases are often characterized by the presence of intracellular or extracellular protein aggregates in the central nervous system. Mutations of TARDBP gene have been shown to cause Amyotrophic Lateral Sclerosis and have been reported to present with clinical heterogeneity including parkins...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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journal_title：Journal of the neurological sciences
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journal_title：Journal of the neurological sciences
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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更新日期：1987-12-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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更新日期：2011-07-15 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
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pub_type： 杂志文章,评审
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.05.038
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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pub_type： 杂志文章
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pub_type： 杂志文章,meta分析
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journal_title：Journal of the neurological sciences
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.05.014
更新日期：2009-10-15 00:00:00
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pub_type： 杂志文章
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更新日期：2013-04-15 00:00:00
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pub_type： 杂志文章
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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