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Genetics of Alzheimer’s Disease and Related Disorders

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Alzheimer’s Disease

Part of the book series: Current Clinical Neurology ((CCNEU))

Abstract

The purpose of this chapter is to review the genetics of Alzheimer’s disease (AD) and related neurodegenerative disorders, making three fundamental points. First, genetic analysis of kindreds with AD has unequivocally pointed to beta-amyloid (Aβ) as the initiating molecule in the disease. Second, genetic analysis of frontal temporal dementia (FTDP-17) has suggested that tau dysfunction is a proximal cause of neurodegeneration in that disorder and also in both progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), and by analogy, is also likely to be a proximal cause of neurodegeneration in AD. Third, genetic analysis of Parkinson’s disease (PD) kindreds has shown that α-synuclein dysfunction is a proximal cause of degeneration in that disorder, and by analogy is also likely to be a proximal cause of neurodegeneration in AD, because Lewy bodies are a frequent part of the pathology in AD. The theme of this chapter is that genetic analysis—together with pathology investigation—has shown that these diseases share common mechanisms of neurodegeneration, and that they can be grouped into one broadly sketched pathway of pathogenesis.

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Authors
  1. John Hardy
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Editors and Affiliations

  1. The University of Oklahoma College of Medicine, USA

    Ralph W. Richter MD, FACP (Clinical Professor of Neurology and Psychiatry, Director) (Clinical Professor of Neurology and Psychiatry, Director)

  2. Alzheimer’s Disease Research Unit, St. John Medical Center, Tulsa, OK, USA

    Ralph W. Richter MD, FACP (Clinical Professor of Neurology and Psychiatry, Director) (Clinical Professor of Neurology and Psychiatry, Director)

  3. Tulsa, OK, USA

    Brigitte Zoeller Richter DiplPharm (Pharmacist, Publicist) (Pharmacist, Publicist)

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Hardy, J. (2004). Genetics of Alzheimer’s Disease and Related Disorders. In: Richter, R.W., Richter, B.Z. (eds) Alzheimer’s Disease. Current Clinical Neurology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-661-4_1

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  • DOI: https://doi.org/10.1007/978-1-59259-661-4_1

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-4485-9

  • Online ISBN: 978-1-59259-661-4

  • eBook Packages: Springer Book Archive

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