High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands
Article Abstract:
Genetic aspects of frontotemporal dementia (FTD) have been studied in the Netherlands. High prevalence of mutations has been found in the microtubule-associated protein tau in a population study. Thirty-seven patients had one or more first-degree relatives with dementia. Mutation in the tau gene existed in 17.8% of the patients with FTD and in 43% of patients with both FTD and a positive family FTD history. Three missense mutations were responsible for 15.6% of the mutations. Tau mutations are the source of a large fraction of familial FTD cases; families with FTD and no mutations in tau exist.
author: Niermeijer, Martinus F., Goedert, Michel, Ravid, Rivka, Tibben, Aad, Duijn, Cornelia M. van, Oostra, Ben A., Heutink, Peter, Rizzu, Patrizia, Stevens, Martijn, Hillebrand, Marcel, Joosse, Marijke, Swieten, John C. Van, Hasegawa, Masato
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
United Kingdom, Abnormalities, Brain, Chromosome mapping, Genetic disorders, Population genetics, Presenile dementia, Brain abnormalities
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population
Article Abstract:
A genomewide screen of the families with late-onset Alzheimer's disease (AD) is a genetically isolated community from the southwestern area of The Netherlands is presented. This genomewide screen has displayed significant linkage to chromosome 3q23 markers and the analysis has confirmed linkage to chromosome 11q25.
author: Van Broeckhoven, Christine, Oostra, Ben A., Sleegers, Kristel, Fan Liu, Arias-Vasquez, Alejandro, Aulchenko, Yurii S., Kayser, Manfred, Sanchez-Juan, Pascual, Bing-Jian Feng, Bertoli-Avella, Aida M., Van Swieten, Johnc, Axenovich, Tatiana I., Heutink, Peter, Van Duijn, Cornelia M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Alzheimer's disease, Genetic research, Dutch, Dutch (European people)
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
Article Abstract:
Three genome-wide analyses are conducted to establish the HERC2 gene as a new and potential determinant of the human iris color gene variation.
author: Hofman, Albert, van Duijn, Cornelia M., Uitterlinden, Andre G., Vingerling, Johannes R., Klaver, Caroline C.W., Despriet, Dominiek D.G., Oostra, Ben A., Fan Liu, Aulchenko, Yurii S., Kayser, Manfred, Heath, Simon, Janssens, A. Cecile J.W., Rivadeneira, Fernando, Lao, Oscar, van Duijn, Kate, Vermeulen, Mark, Arp, Pascal, Jhamai, Mila M., van Ijcken, Wilfred F.J., den Dunnen, Johan T., Zelenika, Diana, de Jong, Paulus T.V.M.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Observations, Color of eyes, Eye color, Genomics, Genetic variation, Eye colour
subjects list: Research, Usage, Netherlands, Genetic aspects
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