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Open AccessAuthor Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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Article
Open AccessNew insights into the genetic etiology of Alzheimer’s disease and related dementias
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We per...
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Article
Open AccessCommon variants in Alzheimer’s disease and risk stratification by polygenic risk scores
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curat...
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Article
PM20D1 is a quantitative trait locus associated with Alzheimer’s disease
The chances to develop Alzheimer’s disease (AD) result from a combination of genetic and non-genetic risk factors1, the latter likely being mediated by epigenetic mechanisms2. In the past, genome-wide association...
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Article
Open AccessGenetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
Hyperechogenicity of substantia nigra (SNh) is a frequent finding in amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD) and other movement disorders (MD) patients, but its meaning is unclear. To ascert...
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Article
Structural and functional in silico analysis of LRRK2 missense substitutions
The LRRK2 gene (Leucine-Rich Repeat Kinase 2, PARK8) is mutated in a significant number of cases of autosomal dominant Parkinson’s disease (PD) and in some sporadic cases of late-onset PD. LRRK2 is a large, compl...
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Article
Expression of the LGI1 gene product in astrocytic gliomas: downregulation with malignant progression
Loss of heterozygosity in the long arm of chromosome 10q is a frequent event in gliomas. It may involve the LGI1/epitempin gene, which is located in chromosomal region 10q23~24 and has been proposed to encode a t...
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Article
Alzheimer disease PS-1 exon 9 deletion defined
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Article
α-2 macroglobulin gene and Alzheimer disease
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Article
Correction: Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau
Nature Neurosci 1, 355–358 (1998). In preparing Table 1, an old version with incomplete data was inadvertantly used. The correct version is shown here. The authors regret the error.
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Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau
Molecular genetic analysis is revealing the etiologies of Alzheimer's disease (AD) and related dementias. Here we review genetic and molecular biological evidence suggesting that the peptide Aβ42 is central to...
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Article
A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
We describe a novel variant of Alzheimer's disease (AD) in a Finnish pedigree with 17 affected individuals of both sexes in three generations. The disease is characterized by progressive dementia which is, in ...
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Article
Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1
MUTATIONS in the genes encoding amyloid-β precursor protein (APP)1 presenilin 1 (PS1)2 and presenilin 2 (PS2)3,4 are known to cause early-onset, autosomal dominant Alzheimer's disease. Studies of plasma and fibro...
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Article
Apolipoprotein E in Guamanian amyotrophic lateral sclerosis/ parkinsonism-dementia complex: genotype analysis and relationships to neuropathological changes
Apolipoprotein E (Apo E) has been recently identified within amyloid deposits and neurofibrillary tangles in the brains of Alzheimer's disease (AD) patients. A strong association of the Apo E ε4 allele with h...
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Article
Two types of asymmetric acetylcholinesterase in chick hindlimb muscle: Developmental profiles,in Vivo and in cell culture, and recovery after inactivation
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We have analyzed the behavior of two types of asymmetric molecular forms (A forms) of acetylcholinesterase (A...
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