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Full-Text Articles in Medicine and Health Sciences
Genetic Analysis Of Mapt Haplotype Diversity In Frontotemporal Dementia, Simon Laws, Patricia Friedrich, Janine Diehl-Schmid, Jakob Muller, B Ibach, J Bauml, T Eisele, H Forstl, Alexander Kurz, Matthias Riemenschneider
Genetic Analysis Of Mapt Haplotype Diversity In Frontotemporal Dementia, Simon Laws, Patricia Friedrich, Janine Diehl-Schmid, Jakob Muller, B Ibach, J Bauml, T Eisele, H Forstl, Alexander Kurz, Matthias Riemenschneider
Simon Laws
The H1 haplotype of the tau gene, MAPT, has been linked to the sporadic tauopathies corticobasal degeneration and progressive supranuclear palsy; however, there have been inconsistent findings regarding association with frontotemporal dementia (FTD). We investigated MAPT haplotype diversity, in 171 sporadic FTD and 186 healthy controls individuals, and report no single marker or haplotype association with increased risk or changes in age at onset. These findings do not support an association of MAPT with FTD but do not rule out its association with other tauopathies.
No Association Of Common Vcp Variants With Sporadic Frontotemporal Dementia, Axel Schumacher, Patricia Friedrich, Janine Diehl-Schmid, Bernd Ibach, Andreas Schoepfer-Wendels, Jakob Mueller, Lidija Konta, Simon Laws, Alexander Kurz, Hans Foerstl, Matthias Riemenschneider
No Association Of Common Vcp Variants With Sporadic Frontotemporal Dementia, Axel Schumacher, Patricia Friedrich, Janine Diehl-Schmid, Bernd Ibach, Andreas Schoepfer-Wendels, Jakob Mueller, Lidija Konta, Simon Laws, Alexander Kurz, Hans Foerstl, Matthias Riemenschneider
Simon Laws
Mutations in the gene for valosin containing protein (VCP) cause autosomal dominant inclusion body myopathy associated with Paget disease and frontotemporal dementia (IBMPFD). To investigate the role of this novel gene in sporadic forms of frontotemporal dementia (FTD), we genotyped 27 single nucleotide polymorphisms covering the entire VCP genomic region in 198 patients with sporadic FTD and 184 matched controls from Germany. No significant association could be demonstrated. There is no evidence, that common variants in VCP confer a strong risk to the development of sporadic FTD.