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Erschienen in:

01.04.2007 | Case Report

Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual

verfasst von: Vivianna M. Van Deerlin, Mark S. Forman, Jennifer M. Farmer, Murray Grossman, Sonali Joyce, Alex Crowe, John Q. Trojanowski, Virginia M.-Y. Lee, Anjan Chatterjee

Erschienen in: Acta Neuropathologica | Ausgabe 4/2007

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Abstract

Frontotemporal dementia (FTD) is a clinically heterogeneous disorder characterized by alterations in language and/or behavior, often in association with Parkinsonism or motor neuron disease. A familial form of FTD is associated with mutations in the microtubule-associated protein tau (MAPT) gene. We report here on the clinical, neuroimaging, cerebral spinal fluid biomarker, genetic, biochemical and postmortem neuropathological analyses of a case of familial FTD with a Leu266Val MAPT mutation which results in a very early age of onset and a rapid course of disease. This is also the first reported case of any MAPT mutation in an individual of African American ethnicity.

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Titel: Biochemical and pathological characterization of frontotemporal dementia due to a Leu266Val mutation in microtubule-associated protein tau in an African American individual
verfasst von: Vivianna M. Van Deerlin
Mark S. Forman
Jennifer M. Farmer
Murray Grossman
Sonali Joyce
Alex Crowe
John Q. Trojanowski
Virginia M.-Y. Lee
Anjan Chatterjee
Publikationsdatum: 01.04.2007
Verlag: Springer-Verlag
Erschienen in: Acta Neuropathologica / Ausgabe 4/2007
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-006-0155-8

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