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Article

A new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects.

Neuropathology and applied neurobiology - 1 Aug 2005

Neumann M, Mittelbronn M, Simon P, Vanmassenhove B, de Silva R, Lees A, Klapp J, Meyermann R, Kretzschmar H A

Abstract excerpt

Mutations in the tau gene cause familial frontotemporal dementia with parkinsonism linked to chromosome 17 characterized by filamentous tau protein deposits. Here we describe the clinical and neuropathological features of a case from a newly identified family with an intron 10+3-splice site mutation in the tau gene. The proband presented with severe personality changes and stereotyped speech followed by...

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Identifiers

PMID: 16008820
DOI: 10.1111/j.1365-2990.2005.00629.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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