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Article

Pick's disease associated with the novel <i>Tau</i> gene mutation K369I

27 Aug 2001

Abstract excerpt

Exonic and intronic mutations in Tau cause neurodegenerative syndromes characterized by frontotemporal dementia and filamentous tau protein deposits. We describe a K369I missense mutation in exon 12 of Tau in a patient with a pathology typical of sporadic Pick's disease. The proband presented with severe personality changes, followed by loss of cognitive function. Detailed postmortem examination of the brain...

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PMID: 11601501
DOI: 10.1002/ana.1223

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