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Autosomal Dominant Alzheimer’s Disease: Underlying Causes

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Neurodegenerative Diseases

Abstract

Knowledge about genetics of Alzheimer’s disease (AD), the most prevalent form of dementia, is important to manage challenges of aging populations. So far, genetic analyses of families with autosomal dominant AD, presenting with early-onset dementia (<65 years of age), have found three causal genes: APP, PSEN1, and PSEN2. The possibility to detect carriers of causal mutations could help to evaluate the efficacy of different treatments at either asymptomatic or early stages of dementia. Such individuals are currently enrolled in a longitudinal clinical trial, named the Dominantly Inherited Alzheimer Network (DIAN). We provide an overview for the molecular genetic findings available for causal AD genes, discuss how this knowledge can be applied in clinical practice, and highlight the strategies to detect novel AD genes (e.g., TREM2 and PLD3).

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Acknowledgments

We are grateful for the support from the Canadian Institutes of Health Research, W. Garfield Weston Foundation, Ontario Research Fund, and Alzheimer Society of Ontario.

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Authors and Affiliations

  1. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada

    Mahdi Ghani MD, PhD

  2. Faculty of Medicine, Neurology Division, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Krembil Discovery Tower, 60 Leonard Avenue, 4th Floor – 4KD481, Toronto, ON, Canada

    Ekaterina Rogaeva PhD

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  1. Mahdi Ghani MD, PhD
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  2. Ekaterina Rogaeva PhD
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Correspondence to Ekaterina Rogaeva PhD .

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Editors and Affiliations

  1. Neurology Unit, Alzheimer Center, Neurology Unit, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Daniela Galimberti

  2. Neurology Unit, Alzheimer Center, Neurology Unit, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Elio Scarpini

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Ghani, M., Rogaeva, E. (2014). Autosomal Dominant Alzheimer’s Disease: Underlying Causes. In: Galimberti, D., Scarpini, E. (eds) Neurodegenerative Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-6380-0_3

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  • DOI: https://doi.org/10.1007/978-1-4471-6380-0_3

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