J. Collinge

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Luke W. Bonham, Natasha Z. R. Steele, Celeste M M. Karch, Iris Broce et autres

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator …

us, gb, au, es, it, se, ca, de, be, fr (code pays fourni par la source)

Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Erdogan Taskesen, Aniket Mishra, Sophie van der Sluis, Roberto Ferrari et autres

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.

nl, gb, us, au, es, it, se, ca, de, be, fr, dk (code pays fourni par la source)

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Erdogan Taskesen, Aniket Mishra, Sophie van der Sluis, Raffaele Ferrari et autres

Frontotemporal dementia (FTD) is a neurodegenerative disorder predominantly affecting the frontal and temporal lobes. Genome-wide association studies (GWAS) on FTD identified only a few risk loci. One of the possible explanations is that FTD is clinically, pathologically, and genetically heterogeneous. An important …

nl, gb, us, au, es, it, se, ca, de, be, fr, dk (code pays fourni par la source)

TREM2 VARIANTS INCREASE RISK OF TYPICAL EARLY-ONSET ALZHEIMER'S DISEASE BUT NOT OF PRION OR FRONTOTEMPORAL DEMENTIA

C. Slattery, J. Beck, L. Harper, G. Adamson et autres

Objective Variants in TREM2, a gene expressed on microglia and involved in CNS innate immunity, have recently been reported as rare but strong risk factors for Alzheimer9s disease. Microglial mediated inflammation is implicated in several dementias. It remains unresolved whether TREM2 variant …

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Colin Mahoney, Jon Beck, Jonathan Daniel Rohrer, Tammaryn Lashley et autres

An expanded hexanucleotide repeat in the C9ORF72 gene has recently been identified as a major cause of familial frontotemporal lobar degeneration and motor neuron disease, including cases previously identified as linked to chromosome 9. Here we present a detailed retrospective clinical, neuroimaging …

gb, us (code pays fourni par la source)

POD03 Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation

Peter Rudge, Nick C. Fox, L. Cipolotti, Simon Mead et autres

There are at least 30 different mutations in the prion gene that cause clinical disease. Two of the most frequent in the UK are six octapeptide repeat insertion (6-OPRI) and P102L point mutation. We studied the neuropsychological profile of 18 symptomatic patients …

gb (code pays fourni par la source)

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucineright-arrowserine (L250S) substitution at codon 250 of the presenilin 1 gene

Richard J. Harvey, David W. Ellison, John Hardy, Marlee Hutton et autres

BACKGROUND: Seven affected members are described from a kindred with autosomal dominant familial Alzheimer's disease associated with a novel mutation in the presenilin 1 (PS1) gene on chromosome 14 that results in a leucine to serine substitution at codon 250 (L250S). METHOD: …

gb (code pays fourni par la source)