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Article

Frontotemporal dementia with Pick‐type histology associated with Q336R mutation in the tau gene

30 Mar 2004

Abstract excerpt

In this report, we describe the clinical and neuropathological features of a case of familial frontotemporal dementia (FTD), with onset at 58 years of age and disease duration of 10 years, associated with a novel mutation, Q336R, in the tau gene (tau). In vitro studies concerning the properties of tau proteins bearing this mutation, with respect to microtubule assembly and tau filament aggregation, are reported....

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PMID: 15047590
DOI: 10.1093/brain/awh147

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