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<i>Tau</i>Gene Mutation K257T Causes a Tauopathy Similar to Pick's Disease

1 Nov 2000

Abstract excerpt

Exonic and intronic mutations in Tau cause neurodegenerative syndromes characterized by frontotemporal dementia and filamentous tau protein deposits. Here we describe a K257T missense mutation in exon 9 of Tau. The proband, a 47-yr-old male, presented with severe personality changes followed by semantic memory loss. A diagnosis of Pick's disease was made. The symptoms progressed until death at age 51. The...

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PMID: 11089577
DOI: 10.1093/jnen/59.11.990

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