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Article
Open AccessAbundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a repeat expansion in the gene C9orf72. Importantly, the transcriptomic consequences of...
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The Influence of Transnational Non-Governmental Public Actors on Policy Processes and Policy Outcomes: Rethinking North-South Relations
Transnational non-governmental public actors (NGPAs) represent a dynamic new force in the world of development policy, engaging with governments and international agencies across the North-South divide on issu...
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Article
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
Two groups of neuroscientists have discovered that a mutation in the progranulin gene, which encodes a growth factor, can cause frontotemporal dementia (FTD). The condition, the second most common form of deme...
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Alzheimer disease PS-1 exon 9 deletion defined
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Article
Association between coding variability in the LRP gene and the risk of late-onset Alzheimer’s disease
We have sequenced the entire (89 exons) open reading frame of the LRP gene in 12 cases of Alzheimer’s disease (AD) from Northern France. We have found no novel changes but confirm the occurrence of a polymorp...
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α-2 macroglobulin gene and Alzheimer disease
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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
A locus for familial early–onset Alzhelmer's disease on the long arm of chromosome 14, proximal to the α1–antichymotrypsin gene
Although mutations in the β–amyloid precursor protein gene (APP) on chromosome 21 cause some cases of early–onset Alzheimer's disease (AD), most cases evidently do not have mutations in APP. We analysed ten early...
