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2002 | 43 | 4 | 535-543

Article title

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17

Title variants

Languages of publication

EN

Abstracts

EN
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 C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 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.

Discipline

Year

Volume

43

Issue

4

Pages

535-543

Physical description

Contributors

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References

Document Type

SHORT COMMUNICA

Publication order reference

A. Kowalska, Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland

Identifiers

YADDA identifier

bwmeta1.element.element-from-psjc-32a288ea-8bf7-37ec-abaa-cb33e4923162
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