Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

Article Abstract:

Tau is a neuronal microtubule-associated protein associated with the development of neuronal cell polarity and is found in the brains of people affected by Alzheimer's disease. Some 13 families are known with an inherited dementia known as frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). An identification of mutations causing FTDP-17 shows that they are all mutations of the tau gene, which has long been suspected of involvement in neurodegenerative disease.

Alzheimer's disease, Brain diseases

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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Article Abstract:

Studies have shown that a large proportion of frontotemporal dementia (FTD) patients have a family history of dementia, consistent with a strong genetic component to the disease. It is demonstrated that that in such families FTD is caused by mutations in progranulin (PGRN) that are likely to create null alleles indicating that PGRN is responsible for neurodegenerative disease.

England, Analysis, Gene mutations, Gene mutation, Glycoproteins, Protein research, Structure

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Article Abstract:

Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions of unknown nature has been linked to a chromosome 17q21 region (FTDU-17) containing microtubule associated protein tau (MAPT), which FTDU-17 lack. It is shown that FTDU-17 is caused by mutations in the gene coding for progranulin (PGRN) and leads to neurodegeneration.

Netherlands, Diagnosis, Genetic code, Ubiquitin-proteasome system

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