Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

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Tytuł oryginału: Microtubule associated protein (Tau) gene variability in patients with frontotemporal dementia.
Autorzy: Kowalska Anna, Takahashi Keikichi, Kozubski Wojciech, Tabira Takeshi
Źródło: Folia Neuropathol. 2002: 40 (1) s.1-5, il., tab., bibliogr. 27 poz.
Sygnatura GBL: 304,961

Hasła klasyfikacyjne GBL:
  • genetyka
  • neurologia

    Typ dokumentu:
  • praca kazuistyczna
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • dorośli 45-64 r.ż.
  • dorośli = 65 r.ż.

    Streszczenie angielskie: Frontotemporal dementia represents up to 10 p.c. of all dementias and is, next to Alzheimer's disease and Lewy body disease, the third most common cause of degenerative dementia. The term "frontotemporal dementia" covers a range of conditions, icluding Pick's diseases, frontal lobe degenration and dementia associated with motor neurone disease. Neuropathologically FTD is characterised by atrophy of the frontal and temporal lobes of the cerebral cortex, often with additional subcortical changes. Both familial and more frequently sporadic forms of FTD can be recognised. Recently, mutations in the microtubule-associated protein (tau) gene have been found in families with frontotemporal dementia and parkinsonism linked to chromoseme 17 (FTDP-17). The identification of mutations in the tau gene indicates that the protein plays a central role in the process of neurodegeneration. Epidemiology of frontotemporal dementias in Poland remains still unknown. A prevalence of tau mutations among Polish patients has not been established yet. Here, we report results of a mutational analysis of the tau gene among FTD patients. No pathogenic mutation was found in the analysed sample. The study confirmed that the frequency of tau mutations is very low and depends strongly on the clinical criteria used to select patients. Mutations in the tau gene account only for a small number of FTD cases with a clear autosomal dominant pattern of disease inheritance. Therefore there should exist additional genetic and non-genetic factors contributing to the pathogenesis of both familial (linked and non-linked to chromosome 17) and sporadic forms of FTD.

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    Tytuł oryginału: A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.
    Autorzy: Kowalska Anna, Hasegawa Masato, Miyamoto Katsuichi, Akiguchi Ichiro, Ikemoto Akito, Takahashi Keikichi, Araki Wataru, Tabira Takeshi
    Źródło: J. Appl. Genet. 2002: 43 (4) s.535-543, il., tab., bibliogr. s. 542-543
    Sygnatura GBL: 305,055

    Hasła klasyfikacyjne GBL:
  • psychiatria i psychologia
  • genetyka
  • neurologia

    Typ dokumentu:
  • komunikat
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T - C transition at position +11 of the intron following exon 10 (T - C3'E10 + 11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband's life). The T - C 3'E10 + 11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T - C 3'E10 + 11 mutation as the other 5' splice site mutations of tau exon 10, modifies alternative splicing of exon 10.

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