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Behavioural Variant Frontotemporal Dementia—Defining Genetic and Pathological Subtypes

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Abstract

Behavioural variant frontotemporal dementia (bvFTD) is a clinically, genetically and pathologically heterogeneous neurodegenerative disorder caused by FTLD-tau, FTLD-TDP and FTLD-FUS pathologies. Clinically, patients present with behavioural symptoms that may include one or more of disinhibition, apathy/inertia, loss of sympathy/empathy, perseverative, stereotyped and compulsive/ritualistic behaviour or hyperorality/dietary changes. Cognitive deficits, particularly executive dysfunction, are also seen. Neuroanatomically, patients have frontal and/or temporal lobe atrophy on neuroimaging. However, there is currently no clear correlation between the clinical and neuroanatomical phenotype in life and the underlying pathogenetics. With the advent of clinical trials in bvFTD, establishing the underlying pathology accurately during life will become increasingly important. This review therefore investigates current and future biomarkers that may help make a pathological diagnosis in life, i.e. bvFTD-tau, bvFTD-TDP and bvFTD-FUS, including clinical and neuropsychological data, neuroimaging, blood and CSF markers.

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Acknowledgements

This work was undertaken at UCLH/UCL which received a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres funding scheme. The Dementia Research Centre is an Alzheimer’s Research Trust Co-ordinating Centre.

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Authors and Affiliations

  1. Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK

    Jonathan D. Rohrer

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Correspondence to Jonathan D. Rohrer.

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Rohrer, J.D. Behavioural Variant Frontotemporal Dementia—Defining Genetic and Pathological Subtypes. J Mol Neurosci 45, 583–588 (2011). https://doi.org/10.1007/s12031-011-9542-2

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  • DOI: https://doi.org/10.1007/s12031-011-9542-2

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