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.

United Kingdom, Netherlands, Abnormalities, Brain, Chromosome mapping, Genetic disorders, Population genetics, Presenile dementia, Brain abnormalities

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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.

Science & research, Observations, Color of eyes, Eye color, Genomics, Genetic variation, Eye colour

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